Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88958724_88966741del , CM000669.2:g.88958724_88966741del | GRCh38 |
| NC_000007.13:g.88588038_88596055del , CM000669.1:g.88588038_88596055del | GRCh37 |
| NC_000007.12:g.88425974_88433991del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333190.5:c.108+198640_108+206657del MANE Select | ENSP00000329638.4:n.108+198640_108+206657del | |
| ENST00000333190.4:c.108+198640_108+206657del | ENSP00000329638.4:n.108+198640_108+206657del | |
| NM_181646.3:c.108+198640_108+206657del | NP_857597.1:n.108+198640_108+206657del | |
| NM_181646.4:c.108+198640_108+206657del | NP_857597.1:n.108+198640_108+206657del | |
| NM_181646.5:c.108+198640_108+206657del MANE Select | NP_857597.1:n.108+198640_108+206657del |