Canonical Allele Identifier: CA645610489
Gene: CRYBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25229563_25229564delinsCT , CM000684.2:g.25229563_25229564delinsCT GRCh38
NC_000022.10:g.25625530_25625531delinsCT , CM000684.1:g.25625530_25625531delinsCT GRCh37
NC_000022.9:g.23955530_23955531delinsCT NCBI36
NG_009827.1:g.14919_14920delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.434_435delinsCT MANE Select ENSP00000381273.2:p.Arg145Pro
ENST00000651629.1:c.434_435delinsCT ENSP00000498905.1:p.Arg145Pro
ENST00000398215.2:c.434_435delinsCT ENSP00000381273.2:p.Arg145Pro
NM_000496.2:c.434_435delinsCT NP_000487.1:p.Arg145Pro
XM_006724141.2:c.434_435delinsCT XP_006724204.1:p.Arg145Pro
XM_011529900.1:c.434_435delinsCT XP_011528202.1:p.Arg145Pro
XM_011529901.1:c.434_435delinsCT XP_011528203.1:p.Arg145Pro
XM_006724141.3:c.434_435delinsCT XP_006724204.1:p.Arg145Pro
XM_011529900.2:c.434_435delinsCT XP_011528202.1:p.Arg145Pro
NM_000496.3:c.434_435delinsCT MANE Select NP_000487.1:p.Arg145Pro