(used for variant description)
(last modified May 11, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002890.2 in the RASA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011650.1, covering RASA1 transcript NM_002890.2.
(upstream sequence)
. g.4938
cgtaacccaggcagctggg c.-181
. . . . . . g.4998
gagcctgggctgtggccctaggagggggcgcggcggcgggctctctccttttgttgttgt c.-121
. . . . . . g.5058
ttcctcagcctggggagctgaaggggagacgcgtctgggtggggctgctcggagcccggg c.-61
. . . . . . g.5118
cctggtggcccctggggctcccgggcgggcagggtagggcagagtagagcgggcttcaac c.-1
. . . . . . g.5178
ATGATGGCGGCCGAGGCCGGCAGTGAGGAGGGCGGCCCGGTAACAGCCGGAGCTGGAGGA c.60
M M A A E A G S E E G G P V T A G A G G p.20
. . . . . . g.5238
GGCGGCGCGGCAGCGGGCTCCAGTGCCTATCCCGCAGTGTGTCGGGTGAAGATACCCGCG c.120
G G A A A G S S A Y P A V C R V K I P A p.40
. . . . . . g.5298
GCCCTGCCTGTGGCAGCCGCCCCCTATCCTGGGCTGGTGGAGACCGGAGTGGCTGGAACT c.180
A L P V A A A P Y P G L V E T G V A G T p.60
. . . . . . g.5358
CTGGGTGGCGGAGCCGCTTTGGGGTCAGAGTTCCTAGGAGCCGGGTCTGTGGCAGGGGCA c.240
L G G G A A L G S E F L G A G S V A G A p.80
. . . . . . g.5418
CTGGGGGGAGCTGGACTGACAGGGGGAGGTACTGCTGCTGGCGTAGCTGGTGCTGCTGCT c.300
L G G A G L T G G G T A A G V A G A A A p.100
. . . . . . g.5478
GGCGTGGCCGGTGCTGCTGTTGCTGGACCTAGTGGAGACATGGCTCTCACCAAACTGCCC c.360
G V A G A A V A G P S G D M A L T K L P p.120
. . . . . . g.5538
ACTTCGTTGCTTGCTGAGACTCTCGGGCCAGGCGGCGGTTTTCCCCCTCTGCCCCCTCCC c.420
T S L L A E T L G P G G G F P P L P P P p.140
. . . . . . g.5598
CCTTACCTGCCCCCTTTGGGGGCGGGCCTCGGGACAGTGGACGAAGGTGACTCTCTGGAT c.480
P Y L P P L G A G L G T V D E G D S L D p.160
. . . . . | 02 g.68015
GGACCAGAATACGAGGAGGAAGAGGTGGCCATACCGTTGACCGCTCCTCCAACTAACCA | G c.540
G P E Y E E E E V A I P L T A P P T N Q | p.180
. . . . . . g.68075
TGGTATCACGGAAAACTTGACAGAACGATAGCAGAAGAACGCCTCAGGCAGGCAGGGAAG c.600
W Y H G K L D R T I A E E R L R Q A G K p.200
. . . . . . g.68135
TCTGGCAGTTATCTTATAAGAGAGAGTGATCGGAGGCCAGGGTCCTTTGTACTTTCATTT c.660
S G S Y L I R E S D R R P G S F V L S F p.220
. . . | 03 . . . g.69201
CTTAGCCAGATGAATGTTGTCAACCATTTTAG | GATTATTGCTATGTGTGGAGATTACTAC c.720
L S Q M N V V N H F R | I I A M C G D Y Y p.240
. . . . . . g.69261
ATTGGTGGAAGACGTTTTTCTTCACTGTCAGACCTAATAGGTTATTACAGTCATGTTTCT c.780
I G G R R F S S L S D L I G Y Y S H V S p.260
. . . . | 04 . g.69945
TGTTTGCTTAAAGGAGAAAAATTACTTTACCCAGTTGCACCACCAGAG | CCAGTAGAAGAT c.840
C L L K G E K L L Y P V A P P E | P V E D p.280
. . . . . | 05 g.74641
AGAAGGCGTGTACGAGCTATTCTACCTTACACAAAAGTACCAGACACTGATGAAATAAG | T c.900
R R R V R A I L P Y T K V P D T D E I S | p.300
. . . . . . g.74701
TTCTTAAAAGGAGATATGTTCATTGTTCATAATGAATTAGAAGATGGATGGATGTGGGTT c.960
F L K G D M F I V H N E L E D G W M W V p.320
. . . . . | 06. g.77959
ACAAATTTAAGAACAGATGAACAAGGCCTTATTGTTGAAGACCTAGTAGAAGAGGTG | GGC c.1020
T N L R T D E Q G L I V E D L V E E V | G p.340
. . | 07 . . . g.83369
CGGGAAGAAGATCCACATGAAGGAAAAAT | ATGGTTCCATGGGAAGATTTCCAAACAGGAA c.1080
R E E D P H E G K I | W F H G K I S K Q E p.360
. . | 08 . . . . g.85918
GCTTATAATTTACTAATGACAG | TTGGTCAAGTCTGCAGTTTTCTTGTGAGGCCCTCAGAT c.1140
A Y N L L M T V | G Q V C S F L V R P S D p.380
. . . . . . g.85978
AATACTCCTGGCGATTATTCACTTTATTTCCGGACCAATGAAAATATTCAGCGATTTAAA c.1200
N T P G D Y S L Y F R T N E N I Q R F K p.400
. . . . . | 09 . g.89830
ATATGTCCAACGCCAAACAATCAGTTTATGATGGGAGGCCGGTATTATAACAG | CATTGGG c.1260
I C P T P N N Q F M M G G R Y Y N S | I G p.420
. . . . . . g.89890
GACATCATAGATCACTATCGAAAAGAACAGATTGTTGAAGGATATTATCTTAAGGAACCT c.1320
D I I D H Y R K E Q I V E G Y Y L K E P p.440
. | 10 . . . . . g.99265
GTACCAATGCAG | GATCAAGAACAAGTACTCAATGACACAGTGGATGGCAAGGAAATCTAT c.1380
V P M Q | D Q E Q V L N D T V D G K E I Y p.460
. . . . . . g.99325
AATACCATCCGTCGTAAAACAAAGGATGCCTTTTATAAAAACATTGTTAAGAAAGGTTAT c.1440
N T I R R K T K D A F Y K N I V K K G Y p.480
. | 11 . . . . . g.100061
CTTCTGAAAAAGG | GCAAAGGAAAACGTTGGAAAAATTTATATTTTATCTTAGAGGGTAGT c.1500
L L K K G | K G K R W K N L Y F I L E G S p.500
. . . . . . g.100121
GATGCCCAACTTATTTATTTTGAAAGCGAAAAACGAGCTACCAAACCAAAAGGATTAATA c.1560
D A Q L I Y F E S E K R A T K P K G L I p.520
. . . . . | 12 . g.106489
GATCTCAGTGTATGTTCTGTCTATGTCGTTCATGATAGTCTCTTTGGCAG | GCCAAACTGT c.1620
D L S V C S V Y V V H D S L F G R | P N C p.540
. . . . . . g.106549
TTTCAGATAGTAGTTCAGCACTTTAGTGAAGAACATTACATCTTTTACTTTGCAGGAGAA c.1680
F Q I V V Q H F S E E H Y I F Y F A G E p.560
. | 13 . . . . g.108826
ACTCCAGAACAAGCAGAG | GATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAA c.1740
T P E Q A E | D W M K G L Q A F C N L R K p.580
. . . | 14 . . . g.110853
AGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAG | GTCAGCAGCCTTGTTTTACATATT c.1800
S S P G T S N K R L R Q | V S S L V L H I p.600
. . . . . . g.110913
GAAGAAGCCCATAAACTCCCAGTAAAACATTTTACTAATCCATATTGTAACATCTACCTG c.1860
E E A H K L P V K H F T N P Y C N I Y L p.620
. . . . . . g.110973
AATAGTGTCCAAGTAGCAAAAACTCATGCAAGGGAAGGGCAAAACCCAGTATGGTCAGAA c.1920
N S V Q V A K T H A R E G Q N P V W S E p.640
. | 15 . . . . . g.111552
GAGTTTGTCTTTGA | TGATCTTCCTCCTGACATCAATAGATTTGAAATAACTCTTAGTAAT c.1980
E F V F D | D L P P D I N R F E I T L S N p.660
. . . | 16 . . . g.113088
AAAACAAAGAAAAGCAAAGATCCTGATATCT | TATTTATGCGCTGCCAGTTGAGCCGATTA c.2040
K T K K S K D P D I L | F M R C Q L S R L p.680
. . . . . . g.113148
CAGAAAGGGCATGCCACAGATGAATGGTTTCTGCTCAGCTCCCATATACCATTAAAAGGT c.2100
Q K G H A T D E W F L L S S H I P L K G p.700
. . . . . . g.113208
ATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAA c.2160
I E P G S L R V R A R Y S M E K I M P E p.720
. . | 17 . . . . g.113583
GAAGAGTACAGTGAATTTAAAGAG | CTTATACTGCAAAAGGAACTTCATGTAGTCTATGCT c.2220
E E Y S E F K E | L I L Q K E L H V V Y A p.740
. . . . . . g.113643
TTATCACATGTATGTGGACAAGACCGAACACTACTGGCCAGCATCCTACTGAGGATTTTT c.2280
L S H V C G Q D R T L L A S I L L R I F p.760
. . . . . . g.113703
CTTCACGAAAAGCTTGAATCGTTGTTGTTATGCACACTAAATGACAGAGAAATAAGCATG c.2340
L H E K L E S L L L C T L N D R E I S M p.780
| 18 . . . . . . g.115118
GAAG | ATGAAGCCACTACCCTATTTCGAGCCACAACACTTGCAAGCACCTTGATGGAGCAG c.2400
E D | E A T T L F R A T T L A S T L M E Q p.800
. . . . . . g.115178
TATATGAAAGCCACTGCTACACAGTTTGTTCATCATGCTTTGAAAGACTCTATTTTAAAG c.2460
Y M K A T A T Q F V H H A L K D S I L K p.820
. . | 19. . . . g.116434
ATAATGGAAAGCAAGCAGTCTTGTGAG | TTAAGTCCATCAAAGTTAGAAAAAAATGAAGAT c.2520
I M E S K Q S C E | L S P S K L E K N E D p.840
. . . . . . g.116494
GTGAACACTAATTTAACACACCTATTGAACATACTTTCAGAGCTTGTGGAGAAAATATTC c.2580
V N T N L T H L L N I L S E L V E K I F p.860
. . | 20 . . . . g.117212
ATGGCTTCAGAAATACTTCCACC | GACATTGAGATATATTTATGGGTGTTTACAGAAATCT c.2640
M A S E I L P P | T L R Y I Y G C L Q K S p.880
. . . . . | 21 . g.120389
GTTCAGCATAAGTGGCCTACAAATACCACCATGAGAACAAGAGTTGTTAG | TGGTTTTGTT c.2700
V Q H K W P T N T T M R T R V V S | G F V p.900
. . . . . | 22 g.121969
TTTCTTCGACTCATCTGTCCTGCCATCCTGAATCCACGGATGTTCAATATCATCTCAG | AT c.2760
F L R L I C P A I L N P R M F N I I S D | p.920
. . . . . . g.122029
TCTCCATCTCCTATTGCTGCAAGAACACTGATATTAGTGGCTAAATCTGTGCAGAACTTA c.2820
S P S P I A A R T L I L V A K S V Q N L p.940
. . | 23. . . . g.123525
GCAAATCTTGTGGAATTTGGAGCTAAG | GAGCCCTACATGGAAGGTGTCAATCCATTCATC c.2880
A N L V E F G A K | E P Y M E G V N P F I p.960
. . . . | 24 . . g.126074
AAAAGCAACAAACATCGTATGATCATGTTTTTAGATGAACTTGGG | AATGTACCTGAACTT c.2940
K S N K H R M I M F L D E L G | N V P E L p.980
. . . . . . g.126134
CCGGACACTACAGAGCATTCTAGAACGGACCTGTCCCGTGATTTAGCAGCATTGCATGAG c.3000
P D T T E H S R T D L S R D L A A L H E p.1000
. . . . . . g.126194
ATTTGCGTGGCTCATTCAGATGAACTTCGAACGCTCAGTAATGAGCGTGGTGCACAGCAG c.3060
I C V A H S D E L R T L S N E R G A Q Q p.1020
| 25 . . . . . . g.127526
| CACGTATTGAAAAAGCTTCTGGCTATAACAGAACTGCTTCAACAAAAACAAAACCAGTAT c.3120
| H V L K K L L A I T E L L Q Q K Q N Q Y p.1040
. . g.127550
ACAAAAACCAATGATGTCAGGTAG c.3144
T K T N D V R X p.1047
. . . . . . g.127610
cagccttcgccccagtgttctgcatggattcagcatgtccaacatggtaattcacttcag c.*60
. . . . . . g.127670
tttaatgtctcctttgctcttgccaaaaaatagcacacttttccacattccagtgatgtg c.*120
. . . . . . g.127730
tgagctatgcaaacaaaatccaagattctgctggtgaataactatgccagcaaccttgta c.*180
. . . . . . g.127790
agctatctgtgcaggatatttgcactatttccacatggaatcaatctttaacaacctctg c.*240
. . . . . . g.127850
agccttggtgtacagaccacctttcacaaaacgaaatgctatgactgtatcttgatatct c.*300
. . . . . . g.127910
cgaactttcaaaatatattttcagtacacccagttgccaaagttttgctgtctcttagag c.*360
. . . . . . g.127970
aaagaactatgaaatcaactgacaagaaacacattcttattgacaattgtgtataactgg c.*420
. . . . . . g.128030
attgcagactgttcttactgtaactacttcctgattaggaatatgaccatttgactgttc c.*480
. . . . . . g.128090
aatgattatttgtatttacagtttccagagtttgtcattataataggaacaatctttgct c.*540
. . . . . . g.128150
gtatacttttaaaaaatactctgctatttctcttgctggaactgttgaaagaaaatatat c.*600
. . . . . . g.128210
agaatgatctattgctcatcagctttattttttaaacatacgacttattttgttgaaatt c.*660
. . . . . . g.128270
gtcaaagactgtatttagatctcataatgctttgttaaatgtttacaagtaaatagtttg c.*720
. . . . . . g.128330
aattcagtaaatattattggttgttgtattgatcaatgcatgttacccattcaaccattt c.*780
. . . . . . g.128390
tatagactaccaatttcttttatgttaactagaatgcttttgttaaaagttatttgttca c.*840
. . . . . . g.128450
ttatttgtgctacccctttgattatgcagacaacctcatcagctgcctaacttatccatc c.*900
. . . . . . g.128510
tttgaacttctgactacttgttgtatctgctggatatttagttcaactgtatagttttat c.*960
. . . . . . g.128570
ttacttctgtatgtgtatttttgtgaagtattcacaaaggttaagttaaaataaaaccaa c.*1020
. . g.128593
gggatatcttgcataattgatta c.*1043
(downstream sequence)
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