Canonical Allele Identifier: CA2818609988
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616378del , CM000684.2:g.26616378del GRCh38
NC_000022.10:g.27012342del , CM000684.1:g.27012342del GRCh37
NC_000022.9:g.25342342del NCBI36
NG_009826.1:g.6652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.-19-38del (CRYBB1) MANE Select ENSP00000497249.1:n.-19-38del
ENST00000215939.2:c.-19-38del (CRYBB1) ENSP00000215939.2:n.-19-38del
NM_001887.3:c.-19-38del (CRYBB1) NP_001878.1:n.-19-38del
XM_006724140.2:c.4-6207del (CRYBA4) XP_006724203.1:n.4-6207del
XM_011529898.1:c.24-5530del (CRYBA4) XP_011528200.1:n.24-5530del
XM_011529899.1:c.-9-48del (CRYBB1) XP_011528201.1:n.-9-48del
NM_001887.4:c.-19-38del (CRYBB1) MANE Select NP_001878.1:n.-19-38del
XM_006724140.3:c.4-6207del (CRYBA4) XP_006724203.1:n.4-6207del
XM_011529899.3:c.-9-48del (CRYBB1) XP_011528201.1:n.-9-48del