HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15879527_15879528del , CM000681.2:g.15879527_15879528del | GRCh38 |
NC_000019.9:g.15990337_15990338del , CM000681.1:g.15990337_15990338del | GRCh37 |
NC_000019.8:g.15851337_15851338del | NCBI36 |
NG_007971.2:g.23547_23548del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221700.11:c.1314+76_1314+77del MANE Select | ENSP00000221700.3:n.1314+76_1314+77del | |
ENST00000011989.11:c.1314+76_1314+77del | ENSP00000011989.8:n.1314+76_1314+77del | |
ENST00000221700.10:c.1314+76_1314+77del | ENSP00000221700.3:n.1314+76_1314+77del | |
ENST00000392846.7:n.1257+76_1257+77del | ||
ENST00000589654.2:c.103-100_103-99del | ||
NM_001082.4:c.1314+76_1314+77del | NP_001073.3:n.1314+76_1314+77del | |
NM_001082.5:c.1314+76_1314+77del MANE Select | NP_001073.3:n.1314+76_1314+77del |