Canonical Allele Identifier: CA658658101

Gene: CRYAB

Linked Data

• ClinVar Variation Id: 449708
• ClinVar RCV Id: RCV000520308 ; RCV001307091 ; RCV004023547
• dbSNP Id: rs1555165393

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111910322_111910323delinsAC , CM000673.2:g.111910322_111910323delinsAC	GRCh38
NC_000011.9:g.111781046_111781047delinsAC , CM000673.1:g.111781046_111781047delinsAC	GRCh37
NC_000011.8:g.111286256_111286257delinsAC	NCBI36
NG_009824.2:g.18400_18401delinsGT
NG_033080.1:g.2587_2588delinsAC
NG_009824.3:g.18400_18401delinsGT
NG_033080.2:g.2587_2588delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526167.5:c.123+4_123+5delinsGT	ENSP00000434793.1:n.123+4_123+5delinsGT
ENST00000526180.6:c.324+4_324+5delinsGT	ENSP00000436051.1:n.324+4_324+5delinsGT
ENST00000527899.6:c.324+4_324+5delinsGT	ENSP00000436089.2:n.324+4_324+5delinsGT
ENST00000528961.6:c.123+4_123+5delinsGT	ENSP00000435960.1:n.123+4_123+5delinsGT
ENST00000533280.6:c.123+4_123+5delinsGT	ENSP00000435046.1:n.123+4_123+5delinsGT
ENST00000533475.6:c.324+4_324+5delinsGT	ENSP00000433560.1:n.324+4_324+5delinsGT
ENST00000533879.2:c.324+4_324+5delinsGT	ENSP00000435931.2:n.324+4_324+5delinsGT
ENST00000533971.2:c.328_329delinsGT	ENSP00000434269.1:p.Cys110Val
ENST00000616970.5:c.324+4_324+5delinsGT	ENSP00000483554.1:n.324+4_324+5delinsGT
ENST00000650687.2:c.324+4_324+5delinsGT MANE Select	ENSP00000499082.1:n.324+4_324+5delinsGT
ENST00000651164.1:c.324+4_324+5delinsGT	ENSP00000498735.1:n.324+4_324+5delinsGT
ENST00000651650.1:c.123+4_123+5delinsGT	ENSP00000498749.1:n.123+4_123+5delinsGT
ENST00000652223.1:n.1714_1715delinsGT
ENST00000652606.1:n.1642+4_1642+5delinsGT
ENST00000227251.7:c.324+4_324+5delinsGT	ENSP00000227251.3:n.324+4_324+5delinsGT
ENST00000525823.1:c.123+4_123+5delinsGT	ENSP00000435411.1:n.123+4_123+5delinsGT
ENST00000526167.4:c.123+4_123+5delinsGT	ENSP00000434793.1:n.123+4_123+5delinsGT
ENST00000526180.5:c.324+4_324+5delinsGT	ENSP00000436051.1:n.324+4_324+5delinsGT
ENST00000527899.5:c.324+4_324+5delinsGT	ENSP00000436089.1:n.324+4_324+5delinsGT
ENST00000527950.5:c.324+4_324+5delinsGT	ENSP00000437149.1:n.324+4_324+5delinsGT
ENST00000528961.5:c.123+4_123+5delinsGT	ENSP00000435960.1:n.123+4_123+5delinsGT
ENST00000529647.5:c.324+4_324+5delinsGT	ENSP00000431754.1:n.324+4_324+5delinsGT
ENST00000531198.5:c.324+4_324+5delinsGT	ENSP00000434247.1:n.324+4_324+5delinsGT
ENST00000533280.5:c.123+4_123+5delinsGT	ENSP00000435046.1:n.123+4_123+5delinsGT
ENST00000533475.5:c.324+4_324+5delinsGT	ENSP00000433560.1:n.324+4_324+5delinsGT
ENST00000533971.1:c.328_329delinsGT	ENSP00000434269.1:p.Cys110Val
ENST00000616970.4:c.324+4_324+5delinsGT	ENSP00000483554.1:n.324+4_324+5delinsGT
NM_001289807.1:c.324+4_324+5delinsGT	NP_001276736.1:n.324+4_324+5delinsGT
NM_001289808.1:c.324+4_324+5delinsGT	NP_001276737.1:n.324+4_324+5delinsGT
NM_001885.2:c.324+4_324+5delinsGT	NP_001876.1:n.324+4_324+5delinsGT
XM_011542608.1:c.324+4_324+5delinsGT	XP_011540910.1:n.324+4_324+5delinsGT
XM_011542609.1:c.123+4_123+5delinsGT	XP_011540911.1:n.123+4_123+5delinsGT
NM_001330379.1:c.123+4_123+5delinsGT	NP_001317308.1:n.123+4_123+5delinsGT
NM_001289808.2:c.324+4_324+5delinsGT MANE Select	NP_001276737.1:n.324+4_324+5delinsGT
NM_001368245.1:c.324+4_324+5delinsGT	NP_001355174.1:n.324+4_324+5delinsGT
NM_001368246.1:c.123+4_123+5delinsGT	NP_001355175.1:n.123+4_123+5delinsGT
NM_001885.3:c.324+4_324+5delinsGT	NP_001876.1:n.324+4_324+5delinsGT