dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12811526del , CM000686.2:g.12811526del | GRCh38 |
| NC_000024.9:g.14923461del , CM000686.1:g.14923461del | GRCh37 |
| NC_000024.8:g.13432855del | NCBI36 |
| NG_008311.1:g.115302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.4240-109del | ENSP00000498372.1:n.4240-109del | |
| ENST00000338981.7:c.4240-109del MANE Select | ENSP00000342812.3:n.4240-109del | |
| ENST00000426564.6:n.4252-109del | ||
| NM_004654.3:c.4240-109del | NP_004645.2:n.4240-109del | |
| XM_011531469.1:c.4240-109del | XP_011529771.1:n.4240-109del | |
| XM_011531470.1:c.4006-109del | XP_011529772.1:n.4006-109del | |
| XM_017030078.2:c.4255-109del | XP_016885567.1:n.4255-109del | |
| NM_004654.4:c.4240-109del MANE Select | NP_004645.2:n.4240-109del |