(used for variant description)
(last modified January 23, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_198060.3 in the NRAP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering NRAP transcript NM_198060.3.
(upstream sequence)
g.5008
aaaaacca c.-181
. . . . . . g.5068
tccaactgctgacttcaaactagaaggtcagcaaaggaaagtggaagttggattctgaaa c.-121
. . . . . . g.5128
gatcgaggtgcccacaggaattttatggtcgtcggattttgaagacttgaactagactgg c.-61
. . . . . . g.5188
gggttctccttgcatttcttgcctgttgcctatctttgtcctctctcttccggcttcgag c.-1
. . . . . . g.5248
ATGAATGTGCAGCCCTGTTCTAGGTGTGGGTATGGGGTTTATCCTGCCGAGAAGATCAGC c.60
M N V Q P C S R C G Y G V Y P A E K I S p.20
. | 02 . . . . . g.5672
TGTATAGATCAG | ATATGGCATAAAGCCTGTTTTCACTGTGAAGTTTGCAAGATGATGCTG c.120
C I D Q | I W H K A C F H C E V C K M M L p.40
. . . . | 03. . g.6317
TCTGTTAATAACTTTGTGAGTCACCAGAAAAAGCCGTACTGTCACGC | CCATAACCCTAAG c.180
S V N N F V S H Q K K P Y C H A | H N P K p.60
. . . . . . g.6377
AACAACACTTTCACCAGTGTCTATCACACTCCATTAAATCTAAATGTGAGGACATTTCCA c.240
N N T F T S V Y H T P L N L N V R T F P p.80
. | 04 . . . . . g.11541
GAGGCCATCAGTGGG | ATCCATGACCAAGAAGATGGTGAACAGTGTAAATCAGTTTTTCAC c.300
E A I S G | I H D Q E D G E Q C K S V F H p.100
. . . . . . g.11601
TGGGACATGAAATCCAAGGATAAGGAAGGTGCACCTAACAGGCAGCCACTGGCAAATGAG c.360
W D M K S K D K E G A P N R Q P L A N E p.120
| 05 . . . . . . g.15005
| AGAGCCTATTGGACTGGATATGGGGAAGGGAATGCTTGGTGCCCAGGAGCTCTGCCAGAC c.420
| R A Y W T G Y G E G N A W C P G A L P D p.140
. . . . | 06 . . g.16046
CCCGAAATTGTAAGGATGGTTGAGGCTCGAAAGTCTCTTGGTGAG | GAATATACAGAAGAC c.480
P E I V R M V E A R K S L G E | E Y T E D p.160
. . . . . . g.16106
TATGAGCAACCCAGGGGCAAGGGGAGCTTTCCAGCCATGATCACACCTGCTTATCAAAGG c.540
Y E Q P R G K G S F P A M I T P A Y Q R p.180
. . . | 07 . . . g.17193
GCCAAGAAAGCCAACCAGCTGGCCAGCCAA | GTGGAGTATAAGAGAGGGCATGATGAACGC c.600
A K K A N Q L A S Q | V E Y K R G H D E R p.200
. . . . . . g.17253
ATCTCCAGGTTCTCCACGGTGGTGGATACTCCTGAGCTGCTACGGAGCAAGGCTGGGGCA c.660
I S R F S T V V D T P E L L R S K A G A p.220
. | 08 . . . . . g.18570
CAGCTTCAAAGTGAT | GTGAGATACACAGAGGACTATGAACAACAAAGAGGGAAAGGCAGT c.720
Q L Q S D | V R Y T E D Y E Q Q R G K G S p.240
. . . . . . g.18630
TTCCCTGCGATGATCACACCCGCCTATCAGATAGCCAAAAGAGCCAATGAGCTGGCAAGT c.780
F P A M I T P A Y Q I A K R A N E L A S p.260
| 09 . . . . . . g.18986
GAT | GTGAGGTACCATCAACAATATCAAAAAGAAATGAGGGGAATGGCTGGTCCAGCCATT c.840
D | V R Y H Q Q Y Q K E M R G M A G P A I p.280
. . . . | 10 . g.22055
GGAGCTGAGGGCATCTTGACAAGGGAATGTGCAGACCAATATGGCCAG | GGTTACCCGGAG c.900
G A E G I L T R E C A D Q Y G Q | G Y P E p.300
. . . . . . g.22115
GAGTATGAGGAGCACAGGGGAAAGGGCAGCTTCCCAGCTATGATCACTCCAGCATATCAG c.960
E Y E E H R G K G S F P A M I T P A Y Q p.320
. . . | 11 . . . g.23156
AACGCCAAGAAAGCTCACGAACTCGCTAGTGAC | ATAAAATACAGGCAGGACTTCAATAAG c.1020
N A K K A H E L A S D | I K Y R Q D F N K p.340
. . . . . . g.23216
ATGAAAGGCGCTGCACATTATCACTCGCTTCCAGCTCAAGACAACTTGGTTCTCAAACAG c.1080
M K G A A H Y H S L P A Q D N L V L K Q p.360
. . . | 12 . . . g.26062
GCTCAGAGCGTAAACAAACTCGTGAGTGAG | GTGGAGTATAAGAAGGATCTGGAAAGTAGT c.1140
A Q S V N K L V S E | V E Y K K D L E S S p.380
. . . . . . g.26122
AGAGGTCACAGTATCAACTACTGTGAAACACCTCAATTCAGGAACGTGAGCAAGATCTCA c.1200
R G H S I N Y C E T P Q F R N V S K I S p.400
. | 13 . . . . . g.27643
AAATTTACCAGTGAT | AATAAATATAAAGAAAACTACCAGAACCACATGAGAGGCCGCTAT c.1260
K F T S D | N K Y K E N Y Q N H M R G R Y p.420
. . . . . . g.27703
GAAGGAGTTGGTATGGACAGACGCACTCTGCATGCTATGAAAGTTGGCAGCCTGGCAAGC c.1320
E G V G M D R R T L H A M K V G S L A S p.440
| 14 . . . . . . g.28796
AAC | GTTGCCTACAAAGCTGATTATAAACATGATATTGTCGACTACAACTACCCAGCCACT c.1380
N | V A Y K A D Y K H D I V D Y N Y P A T p.460
. . . . | 15 . g.34872
CTCACGCCTTCCTATCAAACAGCTATGAAACTGGTGCCCTTGAAAGAT | GCCAATTATAGG c.1440
L T P S Y Q T A M K L V P L K D | A N Y R p.480
. . . . . . g.34932
CAGAGCATCGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGATTGTTCAAGCC c.1500
Q S I D K L K Y S S V T D T P Q I V Q A p.500
. . | 16. . . . g.35915
AAAATCAATGCCCAGCAGCTGAGTCAT | GTGAATTACCGTGCTGACTATGAGAAAAATAAG c.1560
K I N A Q Q L S H | V N Y R A D Y E K N K p.520
. . . . . . g.35975
TTGAATTACACATTGCCCCAGGATGTTCCTCAGCTGGTGAAGGCCAAAACCAATGCCAAA c.1620
L N Y T L P Q D V P Q L V K A K T N A K p.540
. | 17 . . . . . g.37154
CTCTTCAGTGAG | GTTAAGTATAAAGAAGGCTGGGAGAAGACAAAGGGGAAAGGATTTGAG c.1680
L F S E | V K Y K E G W E K T K G K G F E p.560
. . . . . . g.37214
ATGAAGCTGGATGCCATGTCTCTGCTGGCCGCCAAAGCCTCTGGGGAGCTTGCTAGCAAT c.1740
M K L D A M S L L A A K A S G E L A S N p.580
| 18 . . . . . . g.37520
| ATTAAATATAAAGAAGAATATGAAAAGACAAAAGGCAAAGCCATGGGAACAGCCGACTCT c.1800
| I K Y K E E Y E K T K G K A M G T A D S p.600
. . . . | 19 . . g.39303
AGGCTTCTGCACTCCCTGCAGATTGCTAAGATGAGCAGTGAG | GTTGAATATAAGAAAGGC c.1860
R L L H S L Q I A K M S S E | V E Y K K G p.620
. . . . . . g.39363
TTTGAAGAGAGTAAGACCCGGTTTCACCTGCCCATGGATATGGTAAACATCAGGCATGCT c.1920
F E E S K T R F H L P M D M V N I R H A p.640
. . . . . . g.39423
AAGAAGGCCCAAACTCTCGCCAGTGACCTGGACTACAGGAAGAAACTGCATGAATACACT c.1980
K K A Q T L A S D L D Y R K K L H E Y T p.660
. . . . . . g.39483
GTGCTGCCTGAAGATATGAAGACTCAGTGGGCCAAGAAGGCCTATGGGCTCCAGAGCGAG c.2040
V L P E D M K T Q W A K K A Y G L Q S E p.680
| 20 . . . . . . g.40109
| CTGCAGTACAAGGCTGACCTGGCATGGATGAAGGGAGTTGGGTGGCTGACAGAGGGGAGT c.2100
| L Q Y K A D L A W M K G V G W L T E G S p.700
. . . . | 21 . . g.42940
CTCAACTTGGAACAAGCCAAGAAGGCTGGACAGCTGGTCAGCGAG | AAAAACTACCGGCAG c.2160
L N L E Q A K K A G Q L V S E | K N Y R Q p.720
. . . . . . g.43000
AGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAG c.2220
R V D E L K F T S V T D S S Q M E H A K p.740
. . | 22 . . . . g.44176
AAGAGCCAGGAGCTACAGAGCGGG | GTGGCCTACAAGGCAGGAAATGAGCAGTCTGTCCAT c.2280
K S Q E L Q S G | V A Y K A G N E Q S V H p.760
. . . . . . g.44236
CAGTATACCATCAGCAAAGACGAGCCTCTCTTCCTGCAGGCCCGAGCCAATGCTGCAAAT c.2340
Q Y T I S K D E P L F L Q A R A N A A N p.780
| 23 . . . . . g.45485
CTCAGCGAG | AAACTGTATAAGAGCAGCTGGGAAAACCAGAAAGCAAAAGGGTTTGAGCTG c.2400
L S E | K L Y K S S W E N Q K A K G F E L p.800
. . . . . | 24. g.46893
CGTCTTGATTCCTTGACCTTCCTGGCAGCCAAAGCCAAGAGGGACCTGGCTAGCGAG | GTG c.2460
R L D S L T F L A A K A K R D L A S E | V p.820
. . . . . . g.46953
AAGTACAAGGAGGATTATGAGAGATCCAGAGGGAAGCTCATTGGGGCAAAAGATGTACAG c.2520
K Y K E D Y E R S R G K L I G A K D V Q p.840
. . . . . . g.47013
GGAGATTCGCAAATGAGCCACTCACTGCAAATGTCCAAGCTGCAGAGTGAGCTGGAGTAC c.2580
G D S Q M S H S L Q M S K L Q S E L E Y p.860
. . . . . . g.47073
AAGAAGGGATTCGAGGACACCAAATCCCAATGCCACGTCTCCCTGGACATGGTCCACCTC c.2640
K K G F E D T K S Q C H V S L D M V H L p.880
. . . . . . g.47133
GTGCATGCCCGCAAAGCTCAGCATTTAGCCACAGACGTAGGCTACAAGACAGCGGAACAT c.2700
V H A R K A Q H L A T D V G Y K T A E H p.900
. . . . . . g.47193
CACTTTACGGCTTTGCCCACAGACATGAAGGTGGAATGGGCCAAGAAGGCTTATGGCTTA c.2760
H F T A L P T D M K V E W A K K A Y G L p.920
| 25 . . . . . g.48413
CAGAGTGAT | AACCAATACAGGGCAGATGTGAAGTGGATGAAAGGCATGGGCTGGGTCGCC c.2820
Q S D | N Q Y R A D V K W M K G M G W V A p.940
. . . . . | 26 . g.51523
ACCGGGTCATTAAATGTGGAGCAGGCGAAGAAGGCAGGAGAACTCATTAGCGAG | AAGAAG c.2880
T G S L N V E Q A K K A G E L I S E | K K p.960
. . . . . . g.51583
TACCGTCAGCATCCAGATGCTTTGAAGTTTACCAGTATTAAAGACACTCCGGAGATGGTC c.2940
Y R Q H P D A L K F T S I K D T P E M V p.980
. . . | 27 . . . g.53281
CAGGCCAGAATTAGTTATACCCAAGCAGTGGAT | AGATTATACAGGGAACAAGGAGAAAAC c.3000
Q A R I S Y T Q A V D | R L Y R E Q G E N p.1000
. . . . . . g.53341
ATAAAGCATCATTACACACCGACTGCTGACCTCCCTGAAGTCCTGCTGGCCAAGCTGAAT c.3060
I K H H Y T P T A D L P E V L L A K L N p.1020
. | 28 . . . . g.54166
GCCATGAATATCAGTGAG | ACGCGTTATAAGGAATCCTGGAGCAAACTTCGAGATGGTGGC c.3120
A M N I S E | T R Y K E S W S K L R D G G p.1040
. . . . . . g.54226
TATAAACTGAGGTTGGATGCCCTTCCATTCCAAGCAGCAAAGGCTTCTGGTGAAATCATA c.3180
Y K L R L D A L P F Q A A K A S G E I I p.1060
| 29 . . . . . . g.54828
AGTGAT | TACAAATACAAAGAGGCATTTGAGAAAATGAAAGGACAGATGCTTGGTTCCCGG c.3240
S D | Y K Y K E A F E K M K G Q M L G S R p.1080
. . . . . . g.54888
AGCTTGGAAGATGATATCAGCCTTGCACATTCAGTGTATGCGACCTCACTGCAGAGTGAT c.3300
S L E D D I S L A H S V Y A T S L Q S D p.1100
| 30 . . . . . . g.56699
| GTGAATTACAAGAAAGGCTTTGAACACTCAAAGGCGCAGTTCCATCTGCCGTTGGACATG c.3360
| V N Y K K G F E H S K A Q F H L P L D M p.1120
. . . . . . g.56759
GCCGCCCTGGTGCATGCCAAGAAGGCTCAGACCCTGGCCAGCAATCAGGACTACAAACAT c.3420
A A L V H A K K A Q T L A S N Q D Y K H p.1140
. . . . . . g.56819
CCACTGCCCCAGTACACTTCCTTGGCAGAAGACCTGAGGCTGAGCTGTGCCAAGAAAGCT c.3480
P L P Q Y T S L A E D L R L S C A K K A p.1160
. | 31 . . . . g.58549
CACAAATTGCAGAGTGAG | AATTTGTACCGGTCAGACCTGAACTTTATGCGAGGTGTTGCA c.3540
H K L Q S E | N L Y R S D L N F M R G V A p.1180
. . . . . . g.58609
TGTGTCATTCCAGGCACGTTAGAGATTGAAGGGAGGAAGAAAGCATCGGAACTCATCAGT c.3600
C V I P G T L E I E G R K K A S E L I S p.1200
| 32 . . . . . . g.60615
GAG | AGTAAATATCGGCAGCATCCCCACTCATTCAAGTACACAGCTGTGACAGACACTCCC c.3660
E | S K Y R Q H P H S F K Y T A V T D T P p.1220
. . . . | 33 . . g.62806
AACCTCCTTCATGCGAAATTCAGCAACCAGATAACGAATGAG | CGCCTCTATAAAGCAGCT c.3720
N L L H A K F S N Q I T N E | R L Y K A A p.1240
. . . . . . g.62866
GGAGAGGATGCAAGACACGAGTATACAATGACCCTGGGTCTGCCCGAGTTCATCCGAGCA c.3780
G E D A R H E Y T M T L G L P E F I R A p.1260
. . | 34. . . . g.63234
AAAACGAATGCAGCCAACCTGAGTGAC | GCAAGATACAAAGAGTCCTGGCGTAATCTTCGT c.3840
K T N A A N L S D | A R Y K E S W R N L R p.1280
. . . . . . g.63294
GCTCAAGGCTACAAGCTGACAATAGAAGCGCTCCCCTTCCAGGCTGCCCGGGCCTCTGGA c.3900
A Q G Y K L T I E A L P F Q A A R A S G p.1300
. | 35 . . . . . g.64195
GATATAGCCAGTGAT | TTTCTCTACAGACATGACTTTGTGAAGGAGCGAGGGAAACTCATA c.3960
D I A S D | F L Y R H D F V K E R G K L I p.1320
. . . . . . g.64255
GGGCCCCAGAGTGTAAGAGACGACCCCCGGATCCAGCACTGCCGGCGCATGGGCCAGCTG c.4020
G P Q S V R D D P R I Q H C R R M G Q L p.1340
. . . . . . g.64315
CAGAGCGAGCTTCAGTACAGGAGGGGGGCGACCAGCAGCCAAGCCCAGTTCCATCTGCCC c.4080
Q S E L Q Y R R G A T S S Q A Q F H L P p.1360
. . . . . . g.64375
ATGGACATGGTGCACCTGGTCCATGCCAAGAATGCCCAGGCTCTGGCCAGCGACCACGAC c.4140
M D M V H L V H A K N A Q A L A S D H D p.1380
. . . . . . g.64435
TACAGGACACAGTATCACAAGTTCACAGCACTGCCCGAGGACCTGAAGATGGCCTGGGCC c.4200
Y R T Q Y H K F T A L P E D L K M A W A p.1400
. . | 36. . . . g.71030
AAGAAAGCCCATGCCCTGCAGAGTGAG | TTGCGCTACAAGTCAGACCTGATCGGCATGAAG c.4260
K K A H A L Q S E | L R Y K S D L I G M K p.1420
. . . . . . g.71090
GGCATAGGATGGCTGGCGCTGAGATCCCCACAGATGGAGAGTGCAAAGAAGGCTGGAGAA c.4320
G I G W L A L R S P Q M E S A K K A G E p.1440
. | 37 . . . . . g.71934
CTCATCAGCGAG | ACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTT c.4380
L I S E | T K Y R K K P D S I K F T T V V p.1460
. . . . . | 38 . g.73352
GACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAG | CGCATGTAT c.4440
D S P D L V H A K N S Y M H C N E | R M Y p.1480
. . . . . . g.73412
AGATCTGGAGATGCAGAATCCCTGCACAGATACACCCTGATCCCCGACCATCCCGATTTC c.4500
R S G D A E S L H R Y T L I P D H P D F p.1500
. . . | 39 . . . g.76793
ACCCGAGCTCGCCTCAATGCGCTGCATCTGAGTGAC | AAAGTCTACAGAAACTCCTGGGAG c.4560
T R A R L N A L H L S D | K V Y R N S W E p.1520
. . . . . . g.76853
CAGACCCGGGCTGGCAGTTATGACTTCAGGCTGGATGCCATCCCCTTCCAGACTGCCCGG c.4620
Q T R A G S Y D F R L D A I P F Q T A R p.1540
. . | 40 . . . . g.78217
GCATCTAGGGAGATCGCCAGTGAT | TTCCGGTACAAAGAGGCTTTCCTGCGGGACCGAGGC c.4680
A S R E I A S D | F R Y K E A F L R D R G p.1560
. . . . . . g.78277
CTGCAGATCGGGTACCGCAGTGTCGACGATGACCCAAGGATGAAGCATTTCCTCAACGTT c.4740
L Q I G Y R S V D D D P R M K H F L N V p.1580
. . . . . . g.78337
GGCAGGCTCCAGAGTGACAATGAGTACAAGAAGGACTTTGCCAAGAGTCGGTCCCAGTTT c.4800
G R L Q S D N E Y K K D F A K S R S Q F p.1600
. . . . . . g.78397
CACAGCAGCACAGACCAGCCCGGCCTCCTTCAGGCCAAGAGGAGCCAGCAGCTGGCCAGT c.4860
H S S T D Q P G L L Q A K R S Q Q L A S p.1620
. . . . . . g.78457
GATGTGCACTACAGGCAGCCCCTGCCCCAGCCCACCTGCGACCCGGAGCAGCTGGGCCTC c.4920
D V H Y R Q P L P Q P T C D P E Q L G L p.1640
. . . | 41 . . . g.79297
AGGCATGCTCAGAAGGCCCACCAGCTGCAGAGTGAT | GTCAAGTATAAATCAGACTTGAAC c.4980
R H A Q K A H Q L Q S D | V K Y K S D L N p.1660
. . . . . . g.79357
CTGACCAGAGGTGTTGGCTGGACCCCTCCTGGCTCCTACAAAGTGGAAATGGCTCGGCGG c.5040
L T R G V G W T P P G S Y K V E M A R R p.1680
. . . . | 42 . g.80003
GCTGCGGAACTGGCCAACGCAAGGGGCCTGGGTCTCCAGGGAGCTTAC | CGGGGGGCAGAA c.5100
A A E L A N A R G L G L Q G A Y | R G A E p.1700
. . . . . . g.80063
GCAGTGGAGGCTGGAGATCATCAGAGTGGGGAGGTGAACCCAGATGCCACTGAGATTCTG c.5160
A V E A G D H Q S G E V N P D A T E I L p.1720
. . . g.80096
CACGTCAAAAAGAAGAAGGCCCTGCTGTTGTGA c.5193
H V K K K K A L L L X p.1730
. . . . . . g.80156
gccatgtccaccctgattcctgagaggccagagaggaagtttgttcaccagagacaggct c.*60
. . . . . . g.80216
tcagatggctttgatttcggcaagctggaatggcccaccagcccatcccagatcttcctt c.*120
. . . g.80247
tattaaaataataactctgaaagcagatgga c.*151
(downstream sequence)
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