Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177877del , CM000668.2:g.32177877del | GRCh38 |
| NC_000006.11:g.32145654del , CM000668.1:g.32145654del | GRCh37 |
| NC_000006.10:g.32253632del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+124del | ENSP00000337463.6:n.-10+124del | |
| NM_032741.4:c.-10+124del | NP_116130.2:n.-10+124del | |
| NM_032741.5:c.-10+124del | NP_116130.2:n.-10+124del |