Canonical Allele Identifier: CA2739271007
Gene: CRYAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2811639
ClinVar RCV Id: RCV003735156

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111911522_111911523dup , CM000673.2:g.111911522_111911523dup GRCh38
NC_000011.9:g.111782246_111782247dup , CM000673.1:g.111782246_111782247dup GRCh37
NC_000011.8:g.111287456_111287457dup NCBI36
NG_009824.2:g.17201_17202dup
NG_033080.1:g.3787_3788dup
NG_009824.3:g.17201_17202dup
NG_033080.2:g.3787_3788dup

Transcript Alleles

HGVS Amino-acid change
ENST00000526180.6:c.201+2_201+3dup ENSP00000436051.1:n.201+2_201+3dup
ENST00000527899.6:c.201+2_201+3dup ENSP00000436089.2:n.201+2_201+3dup
ENST00000533475.6:c.201+2_201+3dup ENSP00000433560.1:n.201+2_201+3dup
ENST00000533879.2:c.201+2_201+3dup ENSP00000435931.2:n.201+2_201+3dup
ENST00000533971.2:c.201+2_201+3dup ENSP00000434269.1:n.201+2_201+3dup
ENST00000616970.5:c.201+2_201+3dup ENSP00000483554.1:n.201+2_201+3dup
ENST00000650687.2:c.201+2_201+3dup MANE Select ENSP00000499082.1:n.201+2_201+3dup
ENST00000651164.1:c.201+2_201+3dup ENSP00000498735.1:n.201+2_201+3dup
ENST00000652223.1:n.515_516dup
ENST00000652606.1:n.447_448dup
ENST00000227251.7:c.201+2_201+3dup ENSP00000227251.3:n.201+2_201+3dup
ENST00000526180.5:c.201+2_201+3dup ENSP00000436051.1:n.201+2_201+3dup
ENST00000527899.5:c.201+2_201+3dup ENSP00000436089.1:n.201+2_201+3dup
ENST00000527950.5:c.201+2_201+3dup ENSP00000437149.1:n.201+2_201+3dup
ENST00000528628.5:c.201+2_201+3dup ENSP00000432182.1:n.201+2_201+3dup
ENST00000529647.5:c.201+2_201+3dup ENSP00000431754.1:n.201+2_201+3dup
ENST00000531198.5:c.201+2_201+3dup ENSP00000434247.1:n.201+2_201+3dup
ENST00000533475.5:c.201+2_201+3dup ENSP00000433560.1:n.201+2_201+3dup
ENST00000533879.1:c.201+2_201+3dup ENSP00000435931.1:n.201+2_201+3dup
ENST00000533971.1:c.201+2_201+3dup ENSP00000434269.1:n.201+2_201+3dup
ENST00000616970.4:c.201+2_201+3dup ENSP00000483554.1:n.201+2_201+3dup
NM_001289807.1:c.201+2_201+3dup NP_001276736.1:n.201+2_201+3dup
NM_001289808.1:c.201+2_201+3dup NP_001276737.1:n.201+2_201+3dup
NM_001885.2:c.201+2_201+3dup NP_001876.1:n.201+2_201+3dup
XM_011542608.1:c.201+2_201+3dup XP_011540910.1:n.201+2_201+3dup
NM_001289808.2:c.201+2_201+3dup MANE Select NP_001276737.1:n.201+2_201+3dup
NM_001368245.1:c.201+2_201+3dup NP_001355174.1:n.201+2_201+3dup
NM_001885.3:c.201+2_201+3dup NP_001876.1:n.201+2_201+3dup