(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000129.3 in the F13A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008107.1, covering F13A1 transcript NM_000129.3.
(upstream sequence)
g.5003
att c.-121
. . . . . . g.5063
taagagccaactgtcttgtctttcccgagtccgtttgaggaagtccccgaggcgcacaga c.-61
. . . . . | 02 . g.7027
gcaagcccacgcgagggcacctctggaggggagcgcctgcag | gaccttgtaaagtcaaaa c.-1
. . . . . . g.7087
ATGTCAGAAACTTCCAGGACCGCCTTTGGAGGCAGAAGAGCAGTTCCACCCAATAACTCT c.60
M S E T S R T A F G G R R A V P P N N S p.20
. . . . . . g.7147
AATGCAGCGGAAGATGACCTGCCCACAGTGGAGCTTCAGGGCGTGGTGCCCCGGGGCGTC c.120
N A A E D D L P T V E L Q G V V P R G V p.40
. | 03 . . . . . g.20202
AACCTGCAAG | AGTTTCTTAATGTCACGAGCGTTCACCTGTTCAAGGAGAGATGGGACACT c.180
N L Q E | F L N V T S V H L F K E R W D T p.60
. . . . . . g.20262
AACAAGGTGGACCACCACACTGACAAGTATGAAAACAACAAGCTGATTGTCCGCAGAGGG c.240
N K V D H H T D K Y E N N K L I V R R G p.80
. . . . . . g.20322
CAGTCTTTCTATGTGCAGATTGACTTCAGTCGTCCATATGACCCCAGAAGGGATCTCTTC c.300
Q S F Y V Q I D F S R P Y D P R R D L F p.100
. | 04 . . . . g.58923
AGGGTGGAATACGTCATTG | GTCGCTACCCACAGGAGAACAAGGGAACCTACATCCCAGTG c.360
R V E Y V I G | R Y P Q E N K G T Y I P V p.120
. . . . . . g.58983
CCTATAGTCTCAGAGTTACAAAGTGGAAAGTGGGGGGCCAAGATTGTCATGAGAGAGGAC c.420
P I V S E L Q S G K W G A K I V M R E D p.140
. . . . . . g.59043
AGGTCTGTGCGGCTGTCCATCCAGTCTTCCCCCAAATGTATTGTGGGGAAATTCCGCATG c.480
R S V R L S I Q S S P K C I V G K F R M p.160
. . . . . . g.59103
TATGTTGCTGTCTGGACTCCCTATGGCGTACTTCGAACCAGTCGAAACCCAGAAACAGAC c.540
Y V A V W T P Y G V L R T S R N P E T D p.180
. . . | 05 . . . g.74791
ACGTACATTCTCTTCAATCCTTGGTGTGAAG | ATGATGCTGTGTATCTGGACAATGAGAAA c.600
T Y I L F N P W C E D | D A V Y L D N E K p.200
. . . . . . g.74851
GAAAGAGAAGAGTATGTCCTGAATGACATCGGGGTAATTTTTTATGGAGAGGTCAATGAC c.660
E R E E Y V L N D I G V I F Y G E V N D p.220
. . . | 06 . . . g.77302
ATCAAGACCAGAAGCTGGAGCTATGGTCAG | TTTGAAGATGGCATCCTGGACACTTGCCTG c.720
I K T R S W S Y G Q | F E D G I L D T C L p.240
. . . . . . g.77362
TATGTGATGGACAGAGCACAAATGGACCTCTCTGGAAGAGGGAATCCCATCAAAGTCAGC c.780
Y V M D R A Q M D L S G R G N P I K V S p.260
. | 07 . . . . g.100873
CGTGTGGGGTCTGCAATG | GTGAATGCCAAAGATGACGAAGGTGTCCTCGTTGGATCCTGG c.840
R V G S A M | V N A K D D E G V L V G S W p.280
. . . . . . g.100933
GACAATATCTATGCCTATGGCGTCCCCCCATCGGCCTGGACTGGAAGCGTTGACATTCTA c.900
D N I Y A Y G V P P S A W T G S V D I L p.300
. . . . . . g.100993
TTGGAATACCGGAGCTCTGAGAATCCAGTCCGGTATGGCCAATGCTGGGTTTTTGCTGGT c.960
L E Y R S S E N P V R Y G Q C W V F A G p.320
. | 08 . . . . . g.103567
GTCTTTAACACAT | TTTTACGATGCCTTGGAATACCAGCAAGAATTGTTACCAATTATTTC c.1020
V F N T F | L R C L G I P A R I V T N Y F p.340
. . . . . . g.103627
TCTGCCCATGATAATGATGCCAATTTGCAAATGGACATCTTCCTGGAAGAAGATGGGAAC c.1080
S A H D N D A N L Q M D I F L E E D G N p.360
. . . | 09 . . . g.128393
GTGAATTCCAAACTCACCAAGGATTCAGTGTG | GAACTACCACTGCTGGAATGAAGCATGG c.1140
V N S K L T K D S V W | N Y H C W N E A W p.380
. . . . . . g.128453
ATGACAAGGCCTGACCTTCCTGTTGGATTTGGAGGCTGGCAAGCTGTGGACAGCACCCCC c.1200
M T R P D L P V G F G G W Q A V D S T P p.400
. | 10 . . . . . g.129850
CAGGAAAATAGCGATG | GCATGTATCGGTGTGGCCCCGCCTCGGTTCAAGCCATCAAGCAC c.1260
Q E N S D G | M Y R C G P A S V Q A I K H p.420
. . . . | 11 . . g.143565
GGCCATGTCTGCTTCCAATTTGATGCACCTTTTGTTTTTGCAGAG | GTCAACAGCGACCTC c.1320
G H V C F Q F D A P F V F A E | V N S D L p.440
. . . . . . g.143625
ATTTACATTACAGCTAAGAAAGATGGCACTCATGTGGTGGAAAATGTGGATGCCACCCAC c.1380
I Y I T A K K D G T H V V E N V D A T H p.460
. . . . . . g.143685
ATTGGGAAATTAATTGTGACCAAACAAATTGGAGGAGATGGCATGATGGATATTACTGAT c.1440
I G K L I V T K Q I G G D G M M D I T D p.480
. | 12 . . . . g.150865
ACTTACAAATTCCAAGAAG | GTCAAGAAGAAGAGAGATTGGCCCTAGAAACTGCCCTGATG c.1500
T Y K F Q E G | Q E E E R L A L E T A L M p.500
. . . . . . g.150925
TACGGAGCTAAAAAGCCCCTCAACACAGAAGGTGTCATGAAATCAAGGTCCAACGTTGAC c.1560
Y G A K K P L N T E G V M K S R S N V D p.520
. . . . . . g.150985
ATGGACTTTGAAGTGGAAAATGCTGTGCTGGGAAAAGACTTCAAGCTCTCCATCACCTTC c.1620
M D F E V E N A V L G K D F K L S I T F p.540
. . . . . . g.151045
CGGAACAACAGCCACAACCGTTACACCATCACAGCTTATCTCTCAGCCAACATCACCTTC c.1680
R N N S H N R Y T I T A Y L S A N I T F p.560
. . . . . . g.151105
TACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGACGTTCGACGTGACGCTGGAGCCC c.1740
Y T G V P K A E F K K E T F D V T L E P p.580
| 13. . . . . . g.158126
TTGTCCT | TCAAGAAAGAGGCGGTGCTGATCCAAGCCGGCGAGTACATGGGTCAGCTGCTG c.1800
L S F | K K E A V L I Q A G E Y M G Q L L p.600
. . . . . . g.158186
GAACAAGCGTCCCTGCACTTCTTTGTCACAGCTCGCATCAATGAGACCAGGGATGTTCTG c.1860
E Q A S L H F F V T A R I N E T R D V L p.620
. . . . | 14 . g.173754
GCCAAGCAAAAGTCCACCGTGCTAACCATCCCTGAGATCATCATCAAG | GTCCGTGGCACT c.1920
A K Q K S T V L T I P E I I I K | V R G T p.640
. . . . . . g.173814
CAGGTAGTTGGTTCTGACATGACTGTGACAGTTGAGTTTACCAATCCTTTAAAAGAAACC c.1980
Q V V G S D M T V T V E F T N P L K E T p.660
. . . . . . g.173874
CTGCGAAATGTCTGGGTACACCTGGATGGTCCTGGAGTAACAAGACCAATGAAGAAGATG c.2040
L R N V W V H L D G P G V T R P M K K M p.680
| 15 . . . . . . g.179974
TTCCG | TGAAATCCGGCCCAACTCCACCGTGCAGTGGGAAGAAGTGTGCCGGCCCTGGGTC c.2100
F R | E I R P N S T V Q W E E V C R P W V p.700
. . . . . . g.180034
TCTGGGCATCGGAAGCTGATAGCCAGCATGAGCAGTGACTCCCTGAGACATGTGTATGGC c.2160
S G H R K L I A S M S S D S L R H V Y G p.720
. . . g.180073
GAGCTGGACGTGCAGATTCAAAGACGACCTTCCATGTGA c.2199
E L D V Q I Q R R P S M X p.732
. . . . . . g.180133
atgcacaggaagctgagatgaaccctggcatttggcctcttgtagtcttggctaaggaaa c.*60
. . . . . . g.180193
ttctaacgcaaaaatagctcttgctttgacttaggtgtgaagacccagacaggactgcag c.*120
. . . . . . g.180253
agggctccagagtggagatcccacatatttcaaaaacatgcttttccaaacccaggctat c.*180
. . . . . . g.180313
tcggcaaggaagttagtttttaatctctccaccttccaaagagtgctaagcattagcttt c.*240
. . . . . . g.180373
aattaagctctcatagctcataagagtaacagtcatcatttatcatcacaaatggctaca c.*300
. . . . . . g.180433
tctccaaatatcagtgggctctcttaccagggagatttgctcaatacctggcctcattta c.*360
. . . . . . g.180493
aaacaagacttcagattccccactcagccttttgggaataatagcacatgatttgggctc c.*420
. . . . . . g.180553
tagaattccagtcccctttctcggggtcaggttctaccctccatgtgagaatatttttcc c.*480
. . . . . . g.180613
caggactagagcacaacataatttttatttttggcaaagccagaaaaagatctttcattt c.*540
. . . . . . g.180673
tgcacctgcagccaagcaaatgcctgccaaattttagatttaccttgttagaagaggtgg c.*600
. . . . . . g.180733
ccccatattaacaaattgcatttgtgggaaacttaaccacctacaaggagataagaaagc c.*660
. . . . . . g.180793
aggtgcaacactcaagtctattgaataatgtagttttgtgatgcattttatagaatgtgt c.*720
. . . . . . g.180853
cacactgtggcctgatcagcaggagccaatatcccttactttaaccctttctgggatgca c.*780
. . . . . . g.180913
atactaggaagtaaagtgaagaatttatctctttagttagtgattatatttcacccatct c.*840
. . . . . . g.180973
ctcaggaatcatctcctttgcagaatgatgcaggttcaggtcccctttcagagatataat c.*900
. . . . . . g.181033
aagcccaacaagttgaagaagctggcggatctagtgaccagatatatagaaggactgcag c.*960
. . . . . . g.181093
ccactgattctctcttgtccttcacatcacccatgttgagacctcagcttggcactcagg c.*1020
. . . . . . g.181153
tgctgaagggtaatatggactcagccttgcaaatagccagtgctagttctgacccaacca c.*1080
. . . . . . g.181213
cagaggatgctgacatcatttgtattatgttccaaggctactacagagaaggctgcctgc c.*1140
. . . . . . g.181273
tatgtatttgcaaggctgatttatggtcagaatttccctctgatatgtctagggtgtgat c.*1200
. . . . . . g.181333
ttaggtcagtagactgtgattcttagcaaaaaatgaacagtgataagtatactgggggca c.*1260
. . . . . . g.181393
aaatcagaatggaatgctctggtctatataaccacatttctaagcctttgagactgttcc c.*1320
. . . . . . g.181453
tgagccttcagcactaacctatgagggtgagctggtcccctctatatatacatcatactt c.*1380
. . . . . . g.181513
aactttactaagtaatctcacagcatttgccaagtctcccaatatccaattttaaaatga c.*1440
. . . . . . g.181573
aatgcattttgctagacagttaaactggcttaacttagtatattattattaattacaatg c.*1500
. . . . g.181614
taatagaagcttaaaataaagttaaactgattatatttgca c.*1541
(downstream sequence)
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