HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2717966_2717967insCC , CM000671.2:g.2717966_2717967insCC | GRCh38 |
NC_000009.11:g.2717966_2717967insCC , CM000671.1:g.2717966_2717967insCC | GRCh37 |
NC_000009.10:g.2707966_2707967insCC | NCBI36 |
NG_012181.1:g.5441_5442insCC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382082.4:c.227_228insCC MANE Select | ENSP00000371514.3:p.Gln76HisfsTer25 | |
ENST00000382082.3:c.227_228insCC | ENSP00000371514.3:p.Gln76HisfsTer25 | |
NM_133497.3:c.227_228insCC | NP_598004.1:p.Gln76HisfsTer25 | |
XR_929202.1:n.728_729insCC | ||
XR_929203.1:n.728_729insCC | ||
NM_133497.4:c.227_228insCC MANE Select | NP_598004.1:p.Gln76HisfsTer25 |