Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134291del , CM000669.2:g.40134291del | GRCh38 |
| NC_000007.13:g.40173890del , CM000669.1:g.40173890del | GRCh37 |
| NC_000007.12:g.40140415del | NCBI36 |
| NG_016989.2:g.5362del | |
| NG_023422.1:g.4316del | |
| NG_023422.2:g.4316del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.277del MANE Select | NP_619646.1:p.Ser93ProfsTer? |
| ENST00000306984.8:c.277del MANE Select | ENSP00000304553.5:p.Ser93ProfsTer? |
| NM_138701.3:c.277del | NP_619646.1:p.Ser93ProfsTer? |
| ENST00000306984.6:c.277del | ENSP00000304553.5:p.Ser93ProfsTer? |