Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869156_240869157del , CM000664.2:g.240869156_240869157del | GRCh38 |
| NC_000002.11:g.241808573_241808574del , CM000664.1:g.241808573_241808574del | GRCh37 |
| NC_000002.10:g.241457246_241457247del | NCBI36 |
| NG_008005.1:g.5412_5413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.166-14_166-13del MANE Select | ENSP00000302620.3:n.166-14_166-13del | |
| ENST00000307503.3:c.166-14_166-13del | ENSP00000302620.3:n.166-14_166-13del | |
| ENST00000472436.1:n.186-14_186-13del | ||
| NM_000030.2:c.166-14_166-13del | NP_000021.1:n.166-14_166-13del | |
| XR_924060.1:n.405+1076_405+1077del | ||
| NM_000030.3:c.166-14_166-13del MANE Select | NP_000021.1:n.166-14_166-13del |