Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543294_21543295del , CM000669.2:g.21543294_21543295del | GRCh38 |
| NC_000007.13:g.21582912_21582913del , CM000669.1:g.21582912_21582913del | GRCh37 |
| NC_000007.12:g.21549437_21549438del | NCBI36 |
| NG_012886.2:g.5080_5081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.49_50del MANE Select | ENSP00000475939.1:p.Pro17AspfsTer? | |
| ENST00000328843.10:c.49_50del | ENSP00000330671.7:p.Pro17AspfsTer? | |
| ENST00000409508.7:c.49_50del | ENSP00000475939.1:p.Pro17AspfsTer? | |
| ENST00000620169.4:c.49_50del | ENSP00000481693.1:p.Pro17AspfsTer? | |
| NM_001277115.1:c.49_50del | NP_001264044.1:p.Pro17AspfsTer? | |
| NM_001277115.2:c.49_50del MANE Select | NP_001264044.1:p.Pro17AspfsTer? |