HGVS | Genome Assembly |
---|---|
NC_000009.12:g.97854437_97854451dup , CM000671.2:g.97854437_97854451dup | GRCh38 |
NC_000009.11:g.100616719_100616733dup , CM000671.1:g.100616719_100616733dup | GRCh37 |
NC_000009.10:g.99656540_99656554dup | NCBI36 |
NG_011979.1:g.6183_6197dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375123.5:c.523_537dup MANE Select | ENSP00000364265.3:p.Ala179_Ile180insAlaAlaAlaAlaAla | |
ENST00000375123.4:c.523_537dup | ENSP00000364265.3:p.Ala179_Ile180insAlaAlaAlaAlaAla | |
NM_004473.3:c.523_537dup | NP_004464.2:p.Ala179_Ile180insAlaAlaAlaAlaAla | |
NM_004473.4:c.523_537dup MANE Select | NP_004464.2:p.Ala179_Ile180insAlaAlaAlaAlaAla |