Canonical Allele Identifier: CA2499220749

Gene: CRYAB

Linked Data

• ClinVar Variation Id: 1184448
• ClinVar RCV Id: RCV001542475
• dbSNP Id: rs2137378244

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111908769del , CM000673.2:g.111908769del	GRCh38
NC_000011.9:g.111779493del , CM000673.1:g.111779493del	GRCh37
NC_000011.8:g.111284703del	NCBI36
NG_009824.2:g.19956del
NG_033080.1:g.1034del
NG_009824.3:g.19956del
NG_033080.2:g.1034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526167.5:c.*4del	ENSP00000434793.1:n.*4del
ENST00000526180.6:c.525del	ENSP00000436051.1:p.Lys175AsnfsTer11
ENST00000527899.6:c.525del	ENSP00000436089.2:p.Lys175AsnfsTer11
ENST00000528961.6:c.324del	ENSP00000435960.1:p.Lys108AsnfsTer11
ENST00000533280.6:c.324del	ENSP00000435046.1:p.Lys108AsnfsTer11
ENST00000533475.6:c.525del	ENSP00000433560.1:p.Lys175AsnfsTer11
ENST00000533879.2:c.525del	ENSP00000435931.2:p.Lys175AsnfsTer11
ENST00000533971.2:c.*1416del	ENSP00000434269.1:n.*1416del
ENST00000616970.5:c.525del	ENSP00000483554.1:p.Lys175AsnfsTer11
ENST00000650687.2:c.525del MANE Select	ENSP00000499082.1:p.Lys175AsnfsTer11
ENST00000651164.1:c.525del	ENSP00000498735.1:p.Lys175AsnfsTer11
ENST00000651650.1:c.324del	ENSP00000498749.1:p.Lys108AsnfsTer11
ENST00000652223.1:n.3270del
ENST00000652606.1:n.1843del
ENST00000227251.7:c.525del	ENSP00000227251.3:p.Lys175AsnfsTer11
ENST00000524660.1:c.316del
ENST00000525823.1:c.324del	ENSP00000435411.1:p.Lys108AsnfsTer11
ENST00000526180.5:c.525del	ENSP00000436051.1:p.Lys175AsnfsTer11
ENST00000527950.5:c.525del	ENSP00000437149.1:p.Lys175AsnfsTer11
ENST00000528961.5:c.324del	ENSP00000435960.1:p.Lys108AsnfsTer?
ENST00000531198.5:c.525del	ENSP00000434247.1:p.Lys175AsnfsTer11
ENST00000533280.5:c.324del	ENSP00000435046.1:p.Lys108AsnfsTer11
ENST00000533475.5:c.525del	ENSP00000433560.1:p.Lys175AsnfsTer11
ENST00000616970.4:c.525del	ENSP00000483554.1:p.Lys175AsnfsTer11
NM_001289807.1:c.525del	NP_001276736.1:p.Lys175AsnfsTer11
NM_001289808.1:c.525del	NP_001276737.1:p.Lys175AsnfsTer11
NM_001885.2:c.525del	NP_001876.1:p.Lys175AsnfsTer11
XM_011542608.1:c.525del	XP_011540910.1:p.Lys175AsnfsTer11
XM_011542609.1:c.324del	XP_011540911.1:p.Lys108AsnfsTer11
NM_001330379.1:c.324del	NP_001317308.1:p.Lys108AsnfsTer11
NM_001289808.2:c.525del MANE Select	NP_001276737.1:p.Lys175AsnfsTer11
NM_001368245.1:c.525del	NP_001355174.1:p.Lys175AsnfsTer11
NM_001368246.1:c.324del	NP_001355175.1:p.Lys108AsnfsTer11
NM_001885.3:c.525del	NP_001876.1:p.Lys175AsnfsTer11