ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977840del , CM000667.2:g.149977840del | GRCh38 |
| NC_000005.9:g.149357403del , CM000667.1:g.149357403del | GRCh37 |
| NC_000005.8:g.149337596del | NCBI36 |
| NG_007147.2:g.18958del , LRG_684:g.18958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.420del | ||
| ENST00000286298.5:c.188del MANE Select | ENSP00000286298.4:p.Asp63ValfsTer26 | |
| ENST00000286298.4:c.188del | ENSP00000286298.4:p.Asp63ValfsTer26 | |
| NM_000112.3:c.188del , LRG_684t1:c.188del | NP_000103.2:p.Asp63ValfsTer26 | |
| XM_017009191.2:c.188del | XP_016864680.1:p.Asp63ValfsTer26 | |
| NM_000112.4:c.188del MANE Select | NP_000103.2:p.Asp63ValfsTer26 |