(used for variant description)
(last modified April 22, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001025295.2 in the IFITM5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032892.1, covering IFITM5 transcript NM_001025295.2.
(upstream sequence)
. . . g.5036
accagtctgagtgtggaagagacggcgctggaaccc c.-1
. . . . . . g.5096
ATGGACACGGCGTATCCCCGCGAGGACACCCGGGCCCCCACGCCCAGCAAGGCCGGTGCC c.60
M D T A Y P R E D T R A P T P S K A G A p.20
. . . . . . g.5156
CACACAGCCCTCACACTGGGGGCCCCGCACCCCCCGCCTCGAGACCACTTGATCTGGTCG c.120
H T A L T L G A P H P P P R D H L I W S p.40
. . . . . . g.5216
GTGTTCAGCACCCTCTACCTGAATCTGTGTTGCCTCGGCTTCCTGGCGCTGGCCTACTCC c.180
V F S T L Y L N L C C L G F L A L A Y S p.60
| 02 . . . . . . g.5867
ATCAAG | GCCCGAGATCAGAAGGTGGTTGGTGACCTGGAAGCGGCCCGGCGTTTTGGCTCC c.240
I K | A R D Q K V V G D L E A A R R F G S p.80
. . . . . . g.5927
AAAGCCAAGTGCTACAACATCCTGGCCGCGATGTGGACGCTGGTGCCGCCACTGCTGCTC c.300
K A K C Y N I L A A M W T L V P P L L L p.100
. . . . . . g.5987
CTGGGGCTGGTGGTGACTGGTGCCCTGCACCTGGCCCGGCTGGCCAAGGACTCTGCCGCC c.360
L G L V V T G A L H L A R L A K D S A A p.120
. . . g.6026
TTCTTCAGCACCAAGTTTGATGACGCGGACTATGACTGA c.399
F F S T K F D D A D Y D X p.132
. . . . . . g.6086
caggctgggtcctgatctggggcactagccccaggacactgaccccaggctgctgcccct c.*60
. . . . . . g.6146
ggggcccaatactgactccccggagcctggccctccttctgtggggcctccatccctgcc c.*120
. . . . . . g.6206
ccatcctgatcctggggccctccagccccaacatgggcacctaaggctgaaccagtcaga c.*180
. . . . . . g.6266
ccccggggtcttcaccctaacccgagagttcccgggccctaactctgcccccgatcctgc c.*240
. . . . . . g.6326
ccctccctcctcacactccaggcccctcggttccacgattaaaagtgcctggttccagaa c.*300
g.6327
a c.*301
(downstream sequence)
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