Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868888_240868889delinsAT , CM000664.2:g.240868888_240868889delinsAT | GRCh38 |
| NC_000002.11:g.241808305_241808306delinsAT , CM000664.1:g.241808305_241808306delinsAT | GRCh37 |
| NC_000002.10:g.241456978_241456979delinsAT | NCBI36 |
| NG_008005.1:g.5144_5145delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.23_24delinsAT MANE Select | ENSP00000302620.3:p.Val8Asp | |
| ENST00000307503.3:c.23_24delinsAT | ENSP00000302620.3:p.Val8Asp | |
| ENST00000472436.1:n.43_44delinsAT | ||
| NM_000030.2:c.23_24delinsAT | NP_000021.1:p.Val8Asp | |
| XR_924060.1:n.405+1344_405+1345delinsAT | ||
| NM_000030.3:c.23_24delinsAT MANE Select | NP_000021.1:p.Val8Asp |