Canonical Allele Identifier: CA2573146795

Gene: CRYAB

Linked Data

• ClinVar Variation Id: 1677720
• ClinVar RCV Id: RCV002224462
• dbSNP Id: rs2137384588

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111911606del , CM000673.2:g.111911606del	GRCh38
NC_000011.9:g.111782330del , CM000673.1:g.111782330del	GRCh37
NC_000011.8:g.111287540del	NCBI36
NG_009824.2:g.17117del
NG_033080.1:g.3871del
NG_009824.3:g.17117del
NG_033080.2:g.3871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526180.6:c.119del	ENSP00000436051.1:p.Thr40SerfsTer5
ENST00000527899.6:c.119del	ENSP00000436089.2:p.Thr40SerfsTer5
ENST00000533475.6:c.119del	ENSP00000433560.1:p.Thr40SerfsTer5
ENST00000533879.2:c.119del	ENSP00000435931.2:p.Thr40SerfsTer5
ENST00000533971.2:c.119del	ENSP00000434269.1:p.Thr40SerfsTer5
ENST00000616970.5:c.119del	ENSP00000483554.1:p.Thr40SerfsTer5
ENST00000650687.2:c.119del MANE Select	ENSP00000499082.1:p.Thr40SerfsTer5
ENST00000651164.1:c.119del	ENSP00000498735.1:p.Thr40SerfsTer5
ENST00000652223.1:n.431del
ENST00000652606.1:n.363del
ENST00000227251.7:c.119del	ENSP00000227251.3:p.Thr40SerfsTer5
ENST00000526180.5:c.119del	ENSP00000436051.1:p.Thr40SerfsTer5
ENST00000527899.5:c.119del	ENSP00000436089.1:p.Thr40SerfsTer5
ENST00000527950.5:c.119del	ENSP00000437149.1:p.Thr40SerfsTer5
ENST00000528628.5:c.119del	ENSP00000432182.1:p.Thr40SerfsTer5
ENST00000529647.5:c.119del	ENSP00000431754.1:p.Thr40SerfsTer5
ENST00000531198.5:c.119del	ENSP00000434247.1:p.Thr40SerfsTer5
ENST00000533475.5:c.119del	ENSP00000433560.1:p.Thr40SerfsTer5
ENST00000533879.1:c.119del	ENSP00000435931.1:p.Thr40SerfsTer5
ENST00000533971.1:c.119del	ENSP00000434269.1:p.Thr40SerfsTer5
ENST00000616970.4:c.119del	ENSP00000483554.1:p.Thr40SerfsTer5
NM_001289807.1:c.119del	NP_001276736.1:p.Thr40SerfsTer5
NM_001289808.1:c.119del	NP_001276737.1:p.Thr40SerfsTer5
NM_001885.2:c.119del	NP_001876.1:p.Thr40SerfsTer5
XM_011542608.1:c.119del	XP_011540910.1:p.Thr40SerfsTer5
NM_001289808.2:c.119del MANE Select	NP_001276737.1:p.Thr40SerfsTer5
NM_001368245.1:c.119del	NP_001355174.1:p.Thr40SerfsTer5
NM_001885.3:c.119del	NP_001876.1:p.Thr40SerfsTer5