Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854440_97854451dup , CM000671.2:g.97854440_97854451dup | GRCh38 |
| NC_000009.11:g.100616722_100616733dup , CM000671.1:g.100616722_100616733dup | GRCh37 |
| NC_000009.10:g.99656543_99656554dup | NCBI36 |
| NG_011979.1:g.6186_6197dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004473.4:c.526_537dup MANE Select | NP_004464.2:p.Ala179_Ile180insAlaAlaAlaAla |
| ENST00000375123.5:c.526_537dup MANE Select | ENSP00000364265.3:p.Ala179_Ile180insAlaAlaAlaAla |
| NM_004473.3:c.526_537dup | NP_004464.2:p.Ala179_Ile180insAlaAlaAlaAla |
| ENST00000375123.4:c.526_537dup | ENSP00000364265.3:p.Ala179_Ile180insAlaAlaAlaAla |