Canonical Allele Identifier: CA1139667006
Gene: CRYBA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26625520_26625522del , CM000684.2:g.26625520_26625522del GRCh38
NC_000022.10:g.27021484_27021486del , CM000684.1:g.27021484_27021486del GRCh37
NC_000022.9:g.25351484_25351486del NCBI36
NG_009825.1:g.8557_8559del

Transcript Alleles

HGVS Amino-acid Change
NM_001886.3:c.198_200del MANE Select NP_001877.1:p.Gln66_Tyr67delinsHis
ENST00000354760.4:c.198_200del MANE Select ENSP00000346805.3:p.Gln66_Tyr67delinsHis
NM_001886.2:c.198_200del NP_001877.1:p.Gln66_Tyr67delinsHis
ENST00000354760.3:c.198_200del ENSP00000346805.3:p.Gln66_Tyr67delinsHis
ENST00000466315.1:n.95_97del
XM_006724140.2:c.213_215del XP_006724203.1:p.Gln71_Tyr72delinsHis
XM_006724140.3:c.213_215del XP_006724203.1:p.Gln71_Tyr72delinsHis
XM_011529898.1:c.312_314del XP_011528200.1:p.Gln104_Tyr105delinsHis
XM_017028598.1:c.231_233del XP_016884087.1:p.Gln77_Tyr78delinsHis