(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002615.5 in the SERPINF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering SERPINF1 transcript NM_002615.5.
(upstream sequence)
. . . g.5037
ggtcgctttaagaaaggagtagctgtaatctgaagcc c.-121
. . . . . . g.5097
tgctggacgctggattagaaggcagcaaaaaaagctctgtgctggctggagccccctcag c.-61
. . . . . . | 02 g.9946
tgtgcaggcttagagggactaggctgggtgtggagctgcagcgtatccacag | gccccagg c.-1
. . . . . . g.10006
ATGCAGGCCCTGGTGCTACTCCTCTGCATTGGAGCCCTCCTCGGGCACAGCAGCTGCCAG c.60
M Q A L V L L L C I G A L L G H S S C Q p.20
. . | 03 . . . . g.12923
AACCCTGCCAGCCCCCCGGAGGAG | GGCTCCCCAGACCCCGACAGCACAGGGGCGCTGGTG c.120
N P A S P P E E | G S P D P D S T G A L V p.40
. . . . . . g.12983
GAGGAGGAGGATCCTTTCTTCAAAGTCCCCGTGAACAAGCTGGCAGCGGCTGTCTCCAAC c.180
E E E D P F F K V P V N K L A A A V S N p.60
. . . . . . g.13043
TTCGGCTATGACCTGTACCGGGTGCGATCCAGCACGAGCCCCACGACCAACGTGCTCCTG c.240
F G Y D L Y R V R S S T S P T T N V L L p.80
. . . . | 04 . . g.14081
TCTCCTCTCAGTGTGGCCACGGCCCTCTCGGCCCTCTCGCTGG | GAGCGGAGCAGCGAACA c.300
S P L S V A T A L S A L S L G | A E Q R T p.100
. . . . . . g.14141
GAATCCATCATTCACCGGGCTCTCTACTATGACTTGATCAGCAGCCCAGACATCCATGGT c.360
E S I I H R A L Y Y D L I S S P D I H G p.120
. . . . . . g.14201
ACCTATAAGGAGCTCCTTGACACGGTCACTGCCCCCCAGAAGAACCTCAAGAGTGCCTCC c.420
T Y K E L L D T V T A P Q K N L K S A S p.140
. | 05 . . . . g.14948
CGGATCGTCTTTGAGAAGA | AGCTGCGCATAAAATCCAGCTTTGTGGCACCTCTGGAAAAG c.480
R I V F E K K | L R I K S S F V A P L E K p.160
. . . . . . g.15008
TCATATGGGACCAGGCCCAGAGTCCTGACGGGCAACCCTCGCTTGGACCTGCAAGAGATC c.540
S Y G T R P R V L T G N P R L D L Q E I p.180
. . . . . . g.15068
AACAACTGGGTGCAGGCGCAGATGAAAGGGAAGCTCGCCAGGTCCACAAAGGAAATTCCC c.600
N N W V Q A Q M K G K L A R S T K E I P p.200
. . . . | 06 . . g.18110
GATGAGATCAGCATTCTCCTTCTCGGTGTGGCGCACTTCAAGG | GGCAGTGGGTAACAAAG c.660
D E I S I L L L G V A H F K G | Q W V T K p.220
. . . . . . g.18170
TTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGATGAAGAGAGGACCGTGAGG c.720
F D S R K T S L E D F Y L D E E R T V R p.240
. . . . . . g.18230
GTCCCCATGATGTCGGACCCTAAGGCTGTTTTACGCTATGGCTTGGATTCAGATCTCAGC c.780
V P M M S D P K A V L R Y G L D S D L S p.260
| 07 . . . . . . g.19621
TGCAAG | ATTGCCCAGCTGCCCTTGACCGGAAGCATGAGTATCATCTTCTTCCTGCCCCTG c.840
C K | I A Q L P L T G S M S I I F F L P L p.280
. . . . . . g.19681
AAAGTGACCCAGAATTTGACCTTGATAGAGGAGAGCCTCACCTCCGAGTTCATTCATGAC c.900
K V T Q N L T L I E E S L T S E F I H D p.300
. . . . . . g.19741
ATAGACCGAGAACTGAAGACCGTGCAGGCGGTCCTCACTGTCCCCAAGCTGAAGCTGAGT c.960
I D R E L K T V Q A V L T V P K L K L S p.320
. . . | 08. . . g.20245
TATGAAGGCGAAGTCACCAAGTCCCTGCAGGAGATGA | AGCTGCAATCCTTGTTTGATTCA c.1020
Y E G E V T K S L Q E M K | L Q S L F D S p.340
. . . . . . g.20305
CCAGACTTTAGCAAGATCACAGGCAAACCCATCAAGCTGACTCAGGTGGAACACCGGGCT c.1080
P D F S K I T G K P I K L T Q V E H R A p.360
. . . . . . g.20365
GGCTTTGAGTGGAACGAGGATGGGGCGGGAACCACCCCCAGCCCAGGGCTGCAGCCTGCC c.1140
G F E W N E D G A G T T P S P G L Q P A p.380
. . . . . . g.20425
CACCTCACCTTCCCGCTGGACTATCACCTTAACCAGCCTTTCATCTTCGTACTGAGGGAC c.1200
H L T F P L D Y H L N Q P F I F V L R D p.400
. . . . . g.20482
ACAGACACAGGGGCCCTTCTCTTCATTGGCAAGATTCTGGACCCCAGGGGCCCCTAA c.1257
T D T G A L L F I G K I L D P R G P X p.418
. . . . . . g.20542
tatcccagtttaatattccaataccctagaagaaaacccgagggacagcagattccacag c.*60
. . . . . g.20601
gacacgaaggctgcccctgtaaggtttcaatgcatacaataaaagagctttatccctaa c.*119
(downstream sequence)
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