Linked Data
dbSNP Id:
rs760895724
ExAC:
19:41928095 CG / C
gnomAD v2:
19-41928095-CG-C
gnomAD v4:
19-41422190-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422193del , CM000681.2:g.41422193del | GRCh38 |
| NC_000019.9:g.41928098del , CM000681.1:g.41928098del | GRCh37 |
| NC_000019.8:g.46619938del | NCBI36 |
| NG_013004.1:g.29405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.676del MANE Select | ENSP00000269980.2:p.Ala226ProfsTer? | |
| ENST00000269980.6:c.676del | ENSP00000269980.2:p.Ala226ProfsTer? | |
| ENST00000457836.6:c.610del | ENSP00000416000.2:p.Ala204ProfsTer? | |
| ENST00000535632.5:n.305del | ||
| ENST00000538423.5:n.802del | ||
| ENST00000540732.3:c.778del | ENSP00000443246.1:p.Ala260ProfsTer? | |
| ENST00000541315.1:c.576del | ||
| ENST00000542943.5:c.589del | ENSP00000440345.1:p.Ala197ProfsTer? | |
| ENST00000545787.1:n.304del | ||
| ENST00000595085.5:c.676del | ENSP00000471150.2:p.Ala226ProfsTer? | |
| NM_000709.3:c.676del | NP_000700.1:p.Ala226ProfsTer? | |
| NM_001164783.1:c.676del | NP_001158255.1:p.Ala226ProfsTer? | |
| NM_000709.4:c.676del MANE Select | NP_000700.1:p.Ala226ProfsTer? | |
| NM_001164783.2:c.676del | NP_001158255.1:p.Ala226ProfsTer? |