HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648727_152648729del , CM000669.2:g.152648727_152648729del | GRCh38 |
NC_000007.13:g.152345812_152345814del , CM000669.1:g.152345812_152345814del | GRCh37 |
NC_000007.12:g.151976745_151976747del | NCBI36 |
NG_027988.1:g.32437_32439del | |
NG_027988.2:g.32437_32439del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.588_590del | ENSP00000513758.1:p.Gln196_Phe197delinsHis | |
ENST00000359321.2:c.756_758del MANE Select | ENSP00000352271.1:p.Gln252_Phe253delinsHis | |
ENST00000359321.1:c.756_758del | ENSP00000352271.1:p.Gln252_Phe253delinsHis | |
ENST00000495707.1:n.778_780del | ||
NM_005431.1:c.756_758del | NP_005422.1:p.Gln252_Phe253delinsHis | |
NM_005431.2:c.756_758del MANE Select | NP_005422.1:p.Gln252_Phe253delinsHis |