Linked Data
dbSNP Id:
rs779437209
ExAC:
19:41930528 AC / A
gnomAD v2:
19-41930528-AC-A
gnomAD v3:
19-41424623-AC-A
gnomAD v4:
19-41424623-AC-A
MyVariant Identifiers:
chr19:g.41930529del (hg19)
chr19:g.41424625del (hg38)
chr19:g.41424624del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424628del , CM000681.2:g.41424628del | GRCh38 |
| NC_000019.9:g.41930533del , CM000681.1:g.41930533del | GRCh37 |
| NC_000019.8:g.46622373del | NCBI36 |
| NG_013004.1:g.31840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.*20del MANE Select | ENSP00000269980.2:n.*20del | |
| ENST00000269980.6:c.*20del | ENSP00000269980.2:n.*20del | |
| ENST00000457836.6:c.*20del | ENSP00000416000.2:n.*20del | |
| ENST00000540732.3:c.*20del | ENSP00000443246.1:n.*20del | |
| ENST00000544905.1:c.188del | ||
| ENST00000595085.5:c.922+1931del | ENSP00000471150.2:n.922+1931del | |
| NM_000709.3:c.*20del | NP_000700.1:n.*20del | |
| NM_001164783.1:c.*20del | NP_001158255.1:n.*20del | |
| NM_000709.4:c.*20del MANE Select | NP_000700.1:n.*20del | |
| NM_001164783.2:c.*20del | NP_001158255.1:n.*20del |