Canonical Allele Identifier: CA2000480390
Gene: CRYAB HGNC NCBI

Linked Data

dbSNP Id: rs1965399769

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111909938del , CM000673.2:g.111909938del GRCh38
NC_000011.9:g.111780662del , CM000673.1:g.111780662del GRCh37
NC_000011.8:g.111285872del NCBI36
NG_009824.2:g.18789del
NG_033080.1:g.2203del
NG_009824.3:g.18789del
NG_033080.2:g.2203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526167.5:c.123+393del ENSP00000434793.1:n.123+393del
ENST00000526180.6:c.324+393del ENSP00000436051.1:n.324+393del
ENST00000527899.6:c.324+393del ENSP00000436089.2:n.324+393del
ENST00000528961.6:c.123+393del ENSP00000435960.1:n.123+393del
ENST00000533280.6:c.123+393del ENSP00000435046.1:n.123+393del
ENST00000533475.6:c.324+393del ENSP00000433560.1:n.324+393del
ENST00000533879.2:c.324+393del ENSP00000435931.2:n.324+393del
ENST00000533971.2:c.*249del ENSP00000434269.1:n.*249del
ENST00000616970.5:c.324+393del ENSP00000483554.1:n.324+393del
ENST00000650687.2:c.324+393del MANE Select ENSP00000499082.1:n.324+393del
ENST00000651164.1:c.324+393del ENSP00000498735.1:n.324+393del
ENST00000651650.1:c.123+393del ENSP00000498749.1:n.123+393del
ENST00000652223.1:n.2103del
ENST00000652606.1:n.1642+393del
ENST00000227251.7:c.324+393del ENSP00000227251.3:n.324+393del
ENST00000525823.1:c.123+393del ENSP00000435411.1:n.123+393del
ENST00000526167.4:c.123+393del ENSP00000434793.1:n.123+393del
ENST00000526180.5:c.324+393del ENSP00000436051.1:n.324+393del
ENST00000527899.5:c.324+393del ENSP00000436089.1:n.324+393del
ENST00000527950.5:c.324+393del ENSP00000437149.1:n.324+393del
ENST00000528961.5:c.123+393del ENSP00000435960.1:n.123+393del
ENST00000529647.5:c.324+393del ENSP00000431754.1:n.324+393del
ENST00000531198.5:c.324+393del ENSP00000434247.1:n.324+393del
ENST00000533280.5:c.123+393del ENSP00000435046.1:n.123+393del
ENST00000533475.5:c.324+393del ENSP00000433560.1:n.324+393del
ENST00000533971.1:c.*249del ENSP00000434269.1:n.*249del
ENST00000616970.4:c.324+393del ENSP00000483554.1:n.324+393del
NM_001289807.1:c.324+393del NP_001276736.1:n.324+393del
NM_001289808.1:c.324+393del NP_001276737.1:n.324+393del
NM_001885.2:c.324+393del NP_001876.1:n.324+393del
XM_011542608.1:c.324+393del XP_011540910.1:n.324+393del
XM_011542609.1:c.123+393del XP_011540911.1:n.123+393del
NM_001330379.1:c.123+393del NP_001317308.1:n.123+393del
NM_001289808.2:c.324+393del MANE Select NP_001276737.1:n.324+393del
NM_001368245.1:c.324+393del NP_001355174.1:n.324+393del
NM_001368246.1:c.123+393del NP_001355175.1:n.123+393del
NM_001885.3:c.324+393del NP_001876.1:n.324+393del