HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851447_131851448insAT , CM000668.2:g.131851447_131851448insAT | GRCh38 |
NC_000006.11:g.132172587_132172588insAT , CM000668.1:g.132172587_132172588insAT | GRCh37 |
NC_000006.10:g.132214280_132214281insAT | NCBI36 |
NG_008206.1:g.48432_48433insAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647893.1:c.556+180_556+181insAT MANE Select | ENSP00000498074.1:n.556+180_556+181insAT | |
ENST00000650147.1:c.234+180_234+181insAT | ||
ENST00000650437.1:c.108+1341_108+1342insAT | ||
ENST00000360971.6:c.556+180_556+181insAT | ENSP00000354238.2:n.556+180_556+181insAT | |
ENST00000513998.5:c.556+180_556+181insAT | ENSP00000422424.1:n.556+180_556+181insAT | |
NM_006208.2:c.556+180_556+181insAT | NP_006199.2:n.556+180_556+181insAT | |
NM_006208.3:c.556+180_556+181insAT MANE Select | NP_006199.2:n.556+180_556+181insAT |