Canonical Allele Identifier: CA918968551

Gene: CRYAB

Linked Data

• ClinVar Variation Id: 1032782
• ClinVar RCV Id: RCV001334970
• dbSNP Id: rs1566402173

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111908777del , CM000673.2:g.111908777del	GRCh38
NC_000011.9:g.111779501del , CM000673.1:g.111779501del	GRCh37
NC_000011.8:g.111284711del	NCBI36
NG_009824.2:g.19950del
NG_033080.1:g.1042del
NG_009824.3:g.19950del
NG_033080.2:g.1042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526167.5:c.318del	ENSP00000434793.1:p.Pro106=
ENST00000526180.6:c.519del	ENSP00000436051.1:p.Lys174ArgfsTer12
ENST00000527899.6:c.519del	ENSP00000436089.2:p.Lys174ArgfsTer12
ENST00000528961.6:c.318del	ENSP00000435960.1:p.Lys107ArgfsTer12
ENST00000533280.6:c.318del	ENSP00000435046.1:p.Lys107ArgfsTer12
ENST00000533475.6:c.519del	ENSP00000433560.1:p.Lys174ArgfsTer12
ENST00000533879.2:c.519del	ENSP00000435931.2:p.Lys174ArgfsTer12
ENST00000533971.2:c.*1410del	ENSP00000434269.1:n.*1410del
ENST00000616970.5:c.519del	ENSP00000483554.1:p.Lys174ArgfsTer12
ENST00000650687.2:c.519del MANE Select	ENSP00000499082.1:p.Lys174ArgfsTer12
ENST00000651164.1:c.519del	ENSP00000498735.1:p.Lys174ArgfsTer12
ENST00000651650.1:c.318del	ENSP00000498749.1:p.Lys107ArgfsTer12
ENST00000652223.1:n.3264del
ENST00000652606.1:n.1837del
ENST00000227251.7:c.519del	ENSP00000227251.3:p.Lys174ArgfsTer12
ENST00000524660.1:c.310del
ENST00000525823.1:c.318del	ENSP00000435411.1:p.Lys107ArgfsTer12
ENST00000526167.4:c.318del	ENSP00000434793.1:p.Pro106=
ENST00000526180.5:c.519del	ENSP00000436051.1:p.Lys174ArgfsTer12
ENST00000527899.5:c.519del	ENSP00000436089.1:p.Lys174ArgfsTer?
ENST00000527950.5:c.519del	ENSP00000437149.1:p.Lys174ArgfsTer12
ENST00000528961.5:c.318del	ENSP00000435960.1:p.Lys107ArgfsTer?
ENST00000531198.5:c.519del	ENSP00000434247.1:p.Lys174ArgfsTer12
ENST00000533280.5:c.318del	ENSP00000435046.1:p.Lys107ArgfsTer12
ENST00000533475.5:c.519del	ENSP00000433560.1:p.Lys174ArgfsTer12
ENST00000616970.4:c.519del	ENSP00000483554.1:p.Lys174ArgfsTer12
NM_001289807.1:c.519del	NP_001276736.1:p.Lys174ArgfsTer12
NM_001289808.1:c.519del	NP_001276737.1:p.Lys174ArgfsTer12
NM_001885.2:c.519del	NP_001876.1:p.Lys174ArgfsTer12
XM_011542608.1:c.519del	XP_011540910.1:p.Lys174ArgfsTer12
XM_011542609.1:c.318del	XP_011540911.1:p.Lys107ArgfsTer12
NM_001330379.1:c.318del	NP_001317308.1:p.Lys107ArgfsTer12
NM_001289808.2:c.519del MANE Select	NP_001276737.1:p.Lys174ArgfsTer12
NM_001368245.1:c.519del	NP_001355174.1:p.Lys174ArgfsTer12
NM_001368246.1:c.318del	NP_001355175.1:p.Lys107ArgfsTer12
NM_001885.3:c.519del	NP_001876.1:p.Lys174ArgfsTer12