Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134431_40134432del , CM000669.2:g.40134431_40134432del | GRCh38 |
| NC_000007.13:g.40174030_40174031del , CM000669.1:g.40174030_40174031del | GRCh37 |
| NC_000007.12:g.40140555_40140556del | NCBI36 |
| NG_016989.2:g.5222_5223del | |
| NG_023422.1:g.4456_4457del | |
| NG_023422.2:g.4456_4457del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306984.8:c.137_138del MANE Select | ENSP00000304553.5:p.Gly46GlufsTer13 | |
| ENST00000306984.6:c.137_138del | ENSP00000304553.5:p.Gly46GlufsTer13 | |
| NM_138701.3:c.137_138del | NP_619646.1:p.Gly46GlufsTer13 | |
| NM_138701.4:c.137_138del MANE Select | NP_619646.1:p.Gly46GlufsTer13 |