Linked Data
ClinVar Variation Id:
557742
ClinVar RCV Id:
RCV000673920
dbSNP Id:
rs755691417
ExAC:
19:41930454 CTGG / C
gnomAD v2:
19-41930454-CTGG-C
gnomAD v4:
19-41424549-CTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424550_41424552del , CM000681.2:g.41424550_41424552del | GRCh38 |
| NC_000019.9:g.41930455_41930457del , CM000681.1:g.41930455_41930457del | GRCh37 |
| NC_000019.8:g.46622295_46622297del | NCBI36 |
| NG_013004.1:g.31762_31764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1280_1282del MANE Select | ENSP00000269980.2:p.Leu427_Ala428delinsPro | |
| ENST00000269980.6:c.1280_1282del | ENSP00000269980.2:p.Leu427_Ala428delinsPro | |
| ENST00000457836.6:c.1289_1291del | ENSP00000416000.2:p.Leu430_Ala431delinsPro | |
| ENST00000540732.3:c.1382_1384del | ENSP00000443246.1:p.Leu461_Ala462delinsPro | |
| ENST00000544905.1:c.110_112del | ||
| ENST00000595085.5:c.922+1853_922+1855del | ENSP00000471150.2:n.922+1853_922+1855del | |
| NM_000709.3:c.1280_1282del | NP_000700.1:p.Leu427_Ala428delinsPro | |
| NM_001164783.1:c.1277_1279del | NP_001158255.1:p.Leu426_Ala427delinsPro | |
| NM_000709.4:c.1280_1282del MANE Select | NP_000700.1:p.Leu427_Ala428delinsPro | |
| NM_001164783.2:c.1277_1279del | NP_001158255.1:p.Leu426_Ala427delinsPro |