Canonical Allele Identifier: CA322863284
Community Standard Title: NM_001887.4(CRYBB1):c.432+327_432+328dup
Gene: CRYBB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607578_26607579dup , CM000684.2:g.26607578_26607579dup GRCh38
NC_000022.10:g.27003542_27003543dup , CM000684.1:g.27003542_27003543dup GRCh37
NC_000022.9:g.25333542_25333543dup NCBI36
NG_009826.1:g.15466_15467dup

Transcript Alleles

HGVS Amino-acid Change
NM_001887.4:c.432+327_432+328dup MANE Select NP_001878.1:n.432+327_432+328dup
ENST00000647684.1:c.432+327_432+328dup MANE Select ENSP00000497249.1:n.432+327_432+328dup
NM_001887.3:c.432+327_432+328dup NP_001878.1:n.432+327_432+328dup
ENST00000215939.2:c.432+327_432+328dup ENSP00000215939.2:n.432+327_432+328dup
ENST00000647569.1:n.244+327_244+328dup
XM_011529899.1:c.432+327_432+328dup XP_011528201.1:n.432+327_432+328dup
XM_011529899.3:c.432+327_432+328dup XP_011528201.1:n.432+327_432+328dup