Linked Data
gnomAD v4:
10-103458325-GGCTGCCGTTGCCCAGTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458329_103458346del , CM000672.2:g.103458329_103458346del | GRCh38 |
| NC_000010.10:g.105218086_105218103del , CM000672.1:g.105218086_105218103del | GRCh37 |
| NC_000010.9:g.105208076_105208093del | NCBI36 |
| NG_016855.1:g.5549_5566del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.409_426del MANE Select | ENSP00000329926.6:p.Ala137_Ser142del | |
| ENST00000329905.5:c.409_426del | ENSP00000329926.5:p.Ala137_Ser142del | |
| NM_001001412.3:c.409_426del | NP_001001412.3:p.Ala137_Ser142del | |
| NM_001001412.4:c.409_426del MANE Select | NP_001001412.3:p.Ala137_Ser142del |