(used for variant description)
(last modified November 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_205842.2 in the NCKAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering NCKAP1 transcript NM_205842.2.
(upstream sequence)
. . . g.4682
gcggcgagcgcctgtcaagcagtgggaggaaaaagcgct c.-721
. . . . . . g.4742
tggagccaccagcccactcttaagcgaaactcgcctggaaaacaccccgcctcccagcag c.-661
. . . . . . g.4802
agtttctgccggtttctttagaagggtggtgcggaaaagcaacttttgggaacttgaagg c.-601
. . . . . . g.4862
agtggggtgtggggcgaagtggaaagagcacacaacgcgaccccactcagtccccgcttg c.-541
. . . . . . g.4922
ggactcccatcccggcatcaggcgtagtgggcggtccgggccagggccagggccagagcg c.-481
. . . . . . g.4982
gcggcggcgaggccatgccgagggcccgtcggccgcagttccccgtccggcctcgcgggg c.-421
. . . . . . g.5042
gcgccggcgctgccgatcaggtgaccgagggcccgtccggggctgcgggaagcggcctcg c.-361
. . . . . . g.5102
ttctcagccgccggagacgccgccgccgccgccgccgccgccacacctagtggagcagcc c.-301
. . . . . . g.5162
ggggaaggcggctcgttgggggctggggcggagagcgccgggggtgggggcggaagggcg c.-241
. . . . . . g.5222
gcgggcggaaggcaggaggctgccggggcgcgggctgctgcgggagaaggggctccgagg c.-181
. . . . . . g.5282
agtccgccgcggctcgctctgtcgccggcgcgggattggggcgcgagggccatgggcgcg c.-121
. . . . . . g.5342
ctctcctaaggcggaggtcgcgggcgggaggggaggaggcccgagagaggctgctgcgaa c.-61
. . . . . . g.5402
ggccgcgggcccgtgactgggcgcgaggcggccggcggcggcggcggcaccagcaccacc c.-1
. . . . . . g.5462
ATGTCGCGCTCAGTGCTGCAGCCCAGTCAGCAGAAGCTGGCGGAGAAGCTCACCATCCTC c.60
M S R S V L Q P S Q Q K L A E K L T I L p.20
. . . . | 02 . g.18518
AACGACCGGGGCGTCGGCATGCTCACCCGCCTCTACAACATCAAGAAG | CAAGGACAAGTT c.120
N D R G V G M L T R L Y N I K K | Q G Q V p.40
| 03 . . . . . . g.19639
TGGAAG | GCATGTGGAGACCCCAAGGCAAAACCATCCTATCTTATCGACAAAAACCTGGAA c.180
W K | A C G D P K A K P S Y L I D K N L E p.60
. . . . . | 04. g.40179
TCTGCTGTGAAATTCATAGTCAGAAAATTCCCTGCTGTAGAAACCCGCAACAACAAT | CAA c.240
S A V K F I V R K F P A V E T R N N N | Q p.80
. . . . . . g.40239
CAGCTTGCACAACTACAGAAAGAAAAATCAGAGATTCTGAAAAATCTGGCATTATATTAC c.300
Q L A Q L Q K E K S E I L K N L A L Y Y p.100
. . . | 05 . . . g.40501
TTCACATTTGTAGATGTTATGGAATTTAAG | GACCATGTTTGTGAATTGCTGAATACTATT c.360
F T F V D V M E F K | D H V C E L L N T I p.120
. . | 06. . . . g.41265
GACGTTTGCCAAGTCTTCTTTGATATT | ACTGTAAACTTTGATTTAACAAAGAACTACTTA c.420
D V C Q V F F D I | T V N F D L T K N Y L p.140
. . . . . . g.41325
GATTTAATTATAACCTATACAACACTAATGATACTGCTGTCTCGAATTGAAGAAAGGAAG c.480
D L I I T Y T T L M I L L S R I E E R K p.160
. . . . . | 07 . g.41468
GCAATCATTGGATTATACAACTATGCCCATGAAATGACTCATGGAGCAAG | TGACAGAGAA c.540
A I I G L Y N Y A H E M T H G A S | D R E p.180
. . . . . . g.41528
TACCCACGCCTTGGCCAGATGATTGTGGATTATGAAAACCCTTTAAAGAAGATGATGGAA c.600
Y P R L G Q M I V D Y E N P L K K M M E p.200
. . | 08 . . . . g.47702
GAATTTGTACCCCATAGCAAG | TCTCTTTCAGATGCACTAATTTCTCTTCAAATGGTATAT c.660
E F V P H S K | S L S D A L I S L Q M V Y p.220
. . . . . . g.47762
CCTCGAAGGAATCTTTCAGCTGACCAGTGGAGAAATGCCCAGTTATTGAGCCTCATCAGT c.720
P R R N L S A D Q W R N A Q L L S L I S p.240
. . . | 09 . . g.48635
GCACCTAGTACAATGCTTAATCCAGCACAGTCCGACACT | ATGCCTTGTGAATACCTCTCT c.780
A P S T M L N P A Q S D T | M P C E Y L S p.260
. . | 10 . . . g.54347
TTGGATGCAATGGAAAAGTGGATTATCT | TTGGCTTTATTTTGTGCCATGGGATCCTAAAT c.840
L D A M E K W I I F | G F I L C H G I L N p.280
. . . . . . g.54407
ACTGACGCTACAGCACTGAACCTTTGGAAACTAGCTCTTCAAAGTAGCTCTTGCCTCTCT c.900
T D A T A L N L W K L A L Q S S S C L S p.300
. . . . . . g.54467
CTCTTTCGGGATGAAGTTTTCCACATTCACAAAGCTGCAGAAGACTTATTTGTAAACATA c.960
L F R D E V F H I H K A A E D L F V N I p.320
| 11 . . . . . . g.57329
CGAGG | CTATAATAAACGTATTAATGACATAAGAGAATGCAAGGAGGCAGCCGTGTCACAT c.1020
R G | Y N K R I N D I R E C K E A A V S H p.340
| 12 . . . . . . g.60177
GC | TGGTTCAATGCACAGAGAAAGACGCAAGTTTTTAAGATCTGCACTGAAGGAATTGGCT c.1080
A | G S M H R E R R K F L R S A L K E L A p.360
. . . | 13 . . g.60595
ACTGTCCTCTCTGATCAACCTGGATTGCTAGGTCCCAAG | GCACTTTTTGTTTTTATGGCA c.1140
T V L S D Q P G L L G P K | A L F V F M A p.380
. . . . . . g.60655
TTATCCTTTGCCCGTGATGAAATCATCTGGCTACTTCGTCATGCAGATAACATGCCAAAG c.1200
L S F A R D E I I W L L R H A D N M P K p.400
. . | 14 . . . . g.62159
AAGAGTGCAGACGACTTTATAGATAA | GCACATTGCTGAATTAATATTTTACATGGAAGAA c.1260
K S A D D F I D K | H I A E L I F Y M E E p.420
. . . . . . g.62219
CTTAGAGCACATGTGAGGAAATACGGACCTGTAATGCAGAGGTATTACGTGCAGTACCTT c.1320
L R A H V R K Y G P V M Q R Y Y V Q Y L p.440
. . . | 15 . . g.64607
TCTGGCTTTGATGCTGTTGTCCTCAATGAACTCGTGCAG | AATCTTTCTGTTTGCCCTGAA c.1380
S G F D A V V L N E L V Q | N L S V C P E p.460
. . . . . . g.64667
GATGAATCAATCATCATGTCCTCTTTTGTTAACACTATGACTTCCCTAAGTGTAAAACAA c.1440
D E S I I M S S F V N T M T S L S V K Q p.480
| 16 . . . . . . g.66609
G | TTGAAGATGGGGAAGTATTTGATTTCAGAGGAATGAGATTAGATTGGTTTAGGTTACAG c.1500
V | E D G E V F D F R G M R L D W F R L Q p.500
| 17 . . . . . . g.76200
| GCATATACTAGTGTCTCAAAGGCTTCACTTGGCCTTGCAGATCACAGAGAACTTGGAAAG c.1560
| A Y T S V S K A S L G L A D H R E L G K p.520
. . . . . . g.76260
ATGATGAATACAATAATTTTTCATACAAAAATGGTAGATTCCTTGGTGGAAATGTTGGTG c.1620
M M N T I I F H T K M V D S L V E M L V p.540
. . | 18 . . . . g.78727
GAAACATCAGATCTCTCCATATTTTG | TTTTTATAGTCGTGCTTTTGAGAAGATGTTTCAA c.1680
E T S D L S I F C | F Y S R A F E K M F Q p.560
. . . . . . g.78787
CAGTGTTTGGAGTTACCCTCTCAATCAAGATACTCAATTGCATTTCCACTACTTTGCACT c.1740
Q C L E L P S Q S R Y S I A F P L L C T p.580
. . . | 19 . . g.81244
CATTTTATGAGTTGCACGCATGAACTATGTCCAGAAGAG | CGACATCATATTGGAGATCGC c.1800
H F M S C T H E L C P E E | R H H I G D R p.600
. . . . . . g.81304
AGTCTTTCCTTATGTAATATGTTCCTAGATGAAATGGCCAAACAAGCTCGAAATCTCATC c.1860
S L S L C N M F L D E M A K Q A R N L I p.620
. . . | 20 . . g.85926
ACTGATATTTGCACAGAACAGTGTACCCTTAGTGACCAG | TTGCTACCCAAGCATTGTGCC c.1920
T D I C T E Q C T L S D Q | L L P K H C A p.640
. . . . . . g.85986
AAAACTATCAGTCAAGCAGTGAATAAGAAATCAAAAAAGCAGACTGGTAAGAAAGGGGAA c.1980
K T I S Q A V N K K S K K Q T G K K G E p.660
. . . . . | 21 g.86909
CCTGAAAGGGAGAAACCAGGTGTTGAGAGCATGAGGAAAAACAGGCTGGTTGTGACCAA | C c.2040
P E R E K P G V E S M R K N R L V V T N | p.680
. . . . . . g.86969
CTTGATAAATTGCACACTGCACTTTCTGAGTTATGCTTCTCTATAAATTATGTACCAAAC c.2100
L D K L H T A L S E L C F S I N Y V P N p.700
. . . . . . g.87029
ATGGTGGTATGGGAACATACCTTTACCCCACGAGAATATTTGACTTCTCATCTGGAAATA c.2160
M V V W E H T F T P R E Y L T S H L E I p.720
. | 22 . . . . . g.90219
CGCTTTACCAA | GTCAATTGTTGGGATGACTATGTATAATCAAGCCACACAGGAAATTGCA c.2220
R F T K | S I V G M T M Y N Q A T Q E I A p.740
. . . . . . g.90279
AAACCTTCAGAACTTCTAACAAGTGTAAGAGCATACATGACCGTACTCCAGTCAATAGAA c.2280
K P S E L L T S V R A Y M T V L Q S I E p.760
. . . . . . g.90339
AACTATGTGCAGATTGATATTACAAGAGTATTTAATAATGTGCTTCTTCAACAAACACAA c.2340
N Y V Q I D I T R V F N N V L L Q Q T Q p.780
. . . . . | 23 . g.90588
CATTTAGACAGTCATGGAGAGCCAACCATTACAAGTCTATACACAAATTG | GTATTTGGAA c.2400
H L D S H G E P T I T S L Y T N W | Y L E p.800
. . . . . . g.90648
ACTTTGTTACGACAAGTCAGCAATGGCCATATAGCATATTTTCCTGCAATGAAAGCGTTT c.2460
T L L R Q V S N G H I A Y F P A M K A F p.820
. . . . . . g.90708
GTGAACTTACCTACAGAAAATGAATTAACATTCAATGCAGAGGAATATTCTGACATATCA c.2520
V N L P T E N E L T F N A E E Y S D I S p.840
| 24 . . . . . . g.91058
G | AAATGAGGTCATTATCAGAACTACTAGGCCCATATGGTATGAAGTTTCTAAGTGAAAGC c.2580
E | M R S L S E L L G P Y G M K F L S E S p.860
. . . | 25 . . g.101359
CTTATGTGGCATATTTCATCACAAGTTGCTGAACTTAAG | AAACTTGTGGTGGAGAATGTT c.2640
L M W H I S S Q V A E L K | K L V V E N V p.880
. . . . . . g.101419
GATGTGTTAACACAAATGAGGACCAGCTTTGACAAACCAGACCAGATGGCTGCACTGTTT c.2700
D V L T Q M R T S F D K P D Q M A A L F p.900
. | 26 . . . . . g.108173
AAAAGATTATCAT | CTGTTGACAGTGTCTTGAAGAGGATGACAATAATTGGTGTAATTTTA c.2760
K R L S S | V D S V L K R M T I I G V I L p.920
. . . | 27 . . . g.108693
TCCTTCCGATCATTGGCACAAGAAGCACTTAGAGAT | GTCTTATCCTACCACATTCCTTTT c.2820
S F R S L A Q E A L R D | V L S Y H I P F p.940
. . . . . | 28. g.112716
CTTGTAAGTTCAATTGAAGATTTTAAGGATCACATTCCAAGGGAAACTGATATGAAG | GTT c.2880
L V S S I E D F K D H I P R E T D M K | V p.960
. . . . . . g.112776
GCAATGAATGTGTATGAGTTATCATCAGCTGCCGGATTACCTTGTGAGATTGATCCTGCA c.2940
A M N V Y E L S S A A G L P C E I D P A p.980
. . . | 29 . . . g.114631
TTGGTCGTAGCTCTTTCTTCACAAAAATCGG | AAAACATTAGTCCAGAAGAAGAGTATAAA c.3000
L V V A L S S Q K S E | N I S P E E E Y K p.1000
. . . . . . g.114691
ATTGCCTGCCTTCTCATGGTGTTTGTGGCAGTTTCTTTGCCAACACTGGCCAGTAATGTG c.3060
I A C L L M V F V A V S L P T L A S N V p.1020
. . | 30 . . . g.115307
ATGTCTCAGTACAGCCCTGCTATAGAAG | GGCATTGCAACAACATACATTGCTTGGCCAAA c.3120
M S Q Y S P A I E G | H C N N I H C L A K p.1040
. . . . . . g.115367
GCCATCAACCAGATTGCTGCAGCTTTGTTTACAATTCACAAAGGAAGCATTGAAGACCGT c.3180
A I N Q I A A A L F T I H K G S I E D R p.1060
. | 31 . . . . g.116638
CTTAAAGAATTTCTGGCG | CTTGCATCCTCCAGTCTACTGAAAATTGGCCAGGAGACAGAT c.3240
L K E F L A | L A S S S L L K I G Q E T D p.1080
. . . . | 32 . g.117695
AAAACTACAACAAGAAATAGAGAATCTGTTTATTTACTGCTAGATATG | ATTGTACAAGAA c.3300
K T T T R N R E S V Y L L L D M | I V Q E p.1100
. . . . . . g.117755
TCTCCATTCCTTACAATGGATCTTTTGGAATCTTGTTTTCCTTATGTCTTGCTGAGAAAT c.3360
S P F L T M D L L E S C F P Y V L L R N p.1120
. . . . g.117800
GCATACCATGCTGTCTACAAACAAAGTGTTACATCTTCTGCATAA c.3405
A Y H A V Y K Q S V T S S A X p.1134
. . . . . . g.117860
aattacctacttaatcaagataagcacgcatttttgttgccttggttttacctgtagact c.*60
. . . . . . g.117920
gtggaactattttaccttaagacctgaaaaagttttgtggattataaatttctttcatac c.*120
. . . . . . g.117980
ggttgtattttctgatcattggtttcttaatatggttgtactacagtatacttggttgat c.*180
. . . . . . g.118040
ttaggttgcacattcactgaattcactgagattattcctataattttaaagtatcattta c.*240
. . . . . . g.118100
tttgaaaaacatacattatcaacatgtttttgatatttgataatgaaaaaaatctttgct c.*300
. . . . . . g.118160
tgtttatttctgaaaaagaactgtatttagtgattattttagatagtgatattatagtat c.*360
. . . . . . g.118220
tcatctgtgtgtaaattatttcatatagggaagagttctgatctgtacctatggttctta c.*420
. . . . . . g.118280
ttgaaaacaacattggatgtgcatttctgtgatgttatgaatacatttctactttatttt c.*480
. . . . . . g.118340
gaaacatttgccaaactaaatactgtaacactgtataacatttaaaaatgttaaagaact c.*540
. . . . . . g.118400
gcttagtattagaagcagatcatttcccaaaattctaagagcagcagcatatgttgttgc c.*600
. . . . . . g.118460
ttgtataaagcctagcgataatttttagactaacttccatggtgccctgttggcattagc c.*660
. . . . . . g.118520
actaccattgtaccctgctgtataataaacaatcttagacatttatcaactgttgataca c.*720
. . . . . . g.118580
aatgttagtccctaaccactttttatatatgttttaaatttttgaaattcaagtgtacct c.*780
. . . . . . g.118640
gccataacataaaataaacactagactgtatcacacttcgattgatttctttaagatcct c.*840
. g.118651
tggatattcgt c.*851
(downstream sequence)
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