HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178357_24178361dup , CM000668.2:g.24178357_24178361dup | GRCh38 |
NC_000006.11:g.24178585_24178589dup , CM000668.1:g.24178585_24178589dup | GRCh37 |
NC_000006.10:g.24286564_24286568dup | NCBI36 |
NG_012829.1:g.184692_184696dup | |
NG_012829.2:g.209932_209936dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1295_1299dup MANE Select | ENSP00000367715.3:p.Gln434SerfsTer14 | |
ENST00000378450.6:c.554_558dup | ENSP00000367711.3:p.Gln187SerfsTer14 | |
ENST00000378454.7:c.1295_1299dup | ENSP00000367715.3:p.Gln434SerfsTer14 | |
NM_001195610.1:c.1295_1299dup | NP_001182539.1:p.Gln434SerfsTer14 | |
NM_016356.4:c.1295_1299dup | NP_057440.2:p.Gln434SerfsTer14 | |
NM_016356.5:c.1295_1299dup MANE Select | NP_057440.2:p.Gln434SerfsTer14 | |
NM_001195610.2:c.1295_1299dup | NP_001182539.1:p.Gln434SerfsTer14 |