Canonical Allele Identifier: CA2000479049
Gene: CRYAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111908750_111908751delinsTC , CM000673.2:g.111908750_111908751delinsTC GRCh38
NC_000011.9:g.111779474_111779475delinsTC , CM000673.1:g.111779474_111779475delinsTC GRCh37
NC_000011.8:g.111284684_111284685delinsTC NCBI36
NG_009824.2:g.19972_19973delinsGA
NG_033080.1:g.1015_1016delinsTC
NG_009824.3:g.19972_19973delinsGA
NG_033080.2:g.1015_1016delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000526167.5:c.*20_*21delinsGA ENSP00000434793.1:n.*20_*21delinsGA
ENST00000526180.6:c.*13_*14delinsGA ENSP00000436051.1:n.*13_*14delinsGA
ENST00000527899.6:c.*13_*14delinsGA ENSP00000436089.2:n.*13_*14delinsGA
ENST00000528961.6:c.*13_*14delinsGA ENSP00000435960.1:n.*13_*14delinsGA
ENST00000533280.6:c.*13_*14delinsGA ENSP00000435046.1:n.*13_*14delinsGA
ENST00000533475.6:c.*13_*14delinsGA ENSP00000433560.1:n.*13_*14delinsGA
ENST00000533879.2:c.*13_*14delinsGA ENSP00000435931.2:n.*13_*14delinsGA
ENST00000533971.2:c.*1432_*1433delinsGA ENSP00000434269.1:n.*1432_*1433delinsGA
ENST00000616970.5:c.*13_*14delinsGA ENSP00000483554.1:n.*13_*14delinsGA
ENST00000650687.2:c.*13_*14delinsGA MANE Select ENSP00000499082.1:n.*13_*14delinsGA
ENST00000651164.1:c.*13_*14delinsGA ENSP00000498735.1:n.*13_*14delinsGA
ENST00000651650.1:c.*13_*14delinsGA ENSP00000498749.1:n.*13_*14delinsGA
ENST00000652223.1:n.3286_3287delinsGA
ENST00000652606.1:n.1859_1860delinsGA
ENST00000227251.7:c.*13_*14delinsGA ENSP00000227251.3:n.*13_*14delinsGA
ENST00000524660.1:c.332_333delinsGA
ENST00000525823.1:c.*13_*14delinsGA ENSP00000435411.1:n.*13_*14delinsGA
ENST00000526180.5:c.*13_*14delinsGA ENSP00000436051.1:n.*13_*14delinsGA
ENST00000527950.5:c.*13_*14delinsGA ENSP00000437149.1:n.*13_*14delinsGA
ENST00000531198.5:c.*13_*14delinsGA ENSP00000434247.1:n.*13_*14delinsGA
ENST00000533280.5:c.*13_*14delinsGA ENSP00000435046.1:n.*13_*14delinsGA
ENST00000533475.5:c.*13_*14delinsGA ENSP00000433560.1:n.*13_*14delinsGA
ENST00000616970.4:c.*13_*14delinsGA ENSP00000483554.1:n.*13_*14delinsGA
NM_001289807.1:c.*13_*14delinsGA NP_001276736.1:n.*13_*14delinsGA
NM_001289808.1:c.*13_*14delinsGA NP_001276737.1:n.*13_*14delinsGA
NM_001885.2:c.*13_*14delinsGA NP_001876.1:n.*13_*14delinsGA
XM_011542608.1:c.*13_*14delinsGA XP_011540910.1:n.*13_*14delinsGA
XM_011542609.1:c.*13_*14delinsGA XP_011540911.1:n.*13_*14delinsGA
NM_001330379.1:c.*13_*14delinsGA NP_001317308.1:n.*13_*14delinsGA
NM_001289808.2:c.*13_*14delinsGA MANE Select NP_001276737.1:n.*13_*14delinsGA
NM_001368245.1:c.*13_*14delinsGA NP_001355174.1:n.*13_*14delinsGA
NM_001368246.1:c.*13_*14delinsGA NP_001355175.1:n.*13_*14delinsGA
NM_001885.3:c.*13_*14delinsGA NP_001876.1:n.*13_*14delinsGA