Canonical Allele Identifier: CA2655844766
Gene: CRYBB2 HGNC NCBI

Linked Data

gnomAD v4: 22-25231815-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231818del , CM000684.2:g.25231818del GRCh38
NC_000022.10:g.25627785del , CM000684.1:g.25627785del GRCh37
NC_000022.9:g.23957785del NCBI36
NG_009827.1:g.17174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*46del MANE Select ENSP00000381273.2:n.*46del
ENST00000651629.1:c.*46del ENSP00000498905.1:n.*46del
ENST00000398215.2:c.*46del ENSP00000381273.2:n.*46del
NM_000496.2:c.*46del NP_000487.1:n.*46del
XM_006724141.2:c.*46del XP_006724204.1:n.*46del
XM_011529900.1:c.*46del XP_011528202.1:n.*46del
XM_011529901.1:c.*46del XP_011528203.1:n.*46del
XM_006724141.3:c.*46del XP_006724204.1:n.*46del
XM_011529900.2:c.*46del XP_011528202.1:n.*46del
NM_000496.3:c.*46del MANE Select NP_000487.1:n.*46del
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