Linked Data
ClinVar Variation Id:
2907759
ClinVar RCV Id:
RCV003727349
dbSNP Id:
rs771091438
ExAC:
1:158604472 CA / C
gnomAD v2:
1-158604472-CA-C
gnomAD v3:
1-158634682-CA-C
gnomAD v4:
1-158634682-CA-C
MyVariant Identifiers:
chr1:g.158604473del (hg19)
chr1:g.158634684del (hg38)
chr1:g.158634683del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158634684del , CM000663.2:g.158634684del | GRCh38 |
| NC_000001.10:g.158604474del , CM000663.1:g.158604474del | GRCh37 |
| NC_000001.9:g.156871098del | NCBI36 |
| NG_011474.1:g.57034del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5433-8del MANE Select | ENSP00000495214.1:n.5433-8del | |
| ENST00000368147.8:c.5433-8del | ENSP00000357129.4:n.5433-8del | |
| ENST00000614909.4:c.5433-8del | ENSP00000482595.1:n.5433-8del | |
| NM_003126.2:c.5433-8del | NP_003117.2:n.5433-8del | |
| XM_011509916.1:c.5433-8del | XP_011508218.1:n.5433-8del | |
| XM_011509917.1:c.5433-8del | XP_011508219.1:n.5433-8del | |
| XM_011509918.1:c.5433-8del | XP_011508220.1:n.5433-8del | |
| XR_921911.1:n.5546-8del | ||
| NM_003126.3:c.5433-8del | NP_003117.2:n.5433-8del | |
| XM_011509916.2:c.5433-8del | XP_011508218.1:n.5433-8del | |
| XM_011509917.3:c.5433-8del | XP_011508219.1:n.5433-8del | |
| XM_011509918.3:c.5433-8del | XP_011508220.1:n.5433-8del | |
| XR_921911.3:n.5559-8del | ||
| NM_003126.4:c.5433-8del MANE Select | NP_003117.2:n.5433-8del |