Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16125232_16125233del , CM000663.2:g.16125232_16125233del | GRCh38 |
| NC_000001.10:g.16451727_16451728del , CM000663.1:g.16451727_16451728del | GRCh37 |
| NC_000001.9:g.16324314_16324315del | NCBI36 |
| NG_021396.1:g.35857_35858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2915_2916del MANE Select | ENSP00000351209.5:p.Val972GlyfsTer? | |
| ENST00000358432.7:c.2915_2916del | ENSP00000351209.5:p.Val972GlyfsTer? | |
| NM_004431.3:c.2915_2916del | NP_004422.2:p.Val972GlyfsTer? | |
| NM_001329090.1:c.2753_2754del | NP_001316019.1:p.Val918GlyfsTer? | |
| NM_004431.4:c.2915_2916del | NP_004422.2:p.Val972GlyfsTer? | |
| NM_004431.5:c.2915_2916del MANE Select | NP_004422.2:p.Val972GlyfsTer? | |
| NM_001329090.2:c.2753_2754del | NP_001316019.1:p.Val918GlyfsTer? |