Canonical Allele Identifier: CA10264848
Gene: CYP2D6 HGNC NCBI

Linked Data

ClinVar Variation Id: 617719
dbSNP Id: rs5030656

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128176_42128178del , CM000684.2:g.42128176_42128178del GRCh38
NC_000022.10:g.42524178_42524180del , CM000684.1:g.42524178_42524180del GRCh37
NC_000022.9:g.40854122_40854124del NCBI36
NG_008376.3:g.6816_6818del
NG_008376.4:g.7635_7637del

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.688_690del ENSP00000353241.6:p.Lys230del
ENST00000645361.2:c.841_843del MANE Select ENSP00000496150.1:p.Lys281del
ENST00000359033.4:c.688_690del ENSP00000351927.4:p.Lys230del
ENST00000360124.9:c.508_510del ENSP00000353241.5:p.Lys170del
ENST00000360608.9:c.841_843del ENSP00000353820.5:p.Lys281del
ENST00000389970.7:c.775_777del ENSP00000374620.4:p.Lys259del
ENST00000488442.1:n.1565_1567del
NM_000106.5:c.841_843del NP_000097.3:p.Lys281del
NM_001025161.2:c.688_690del NP_001020332.2:p.Lys230del
XM_011529966.1:c.841_843del XP_011528268.1:p.Lys281del
XM_011529967.1:c.841_843del XP_011528269.1:p.Lys281del
XM_011529968.1:c.841_843del XP_011528270.1:p.Lys281del
XM_011529969.1:c.697_699del XP_011528271.1:p.Lys233del
XM_011529970.1:c.688_690del XP_011528272.1:p.Lys230del
XM_011529971.1:c.697_699del XP_011528273.1:p.Lys233del
XM_011529972.1:c.841_843del XP_011528274.1:p.Lys281del
NM_000106.6:c.841_843del MANE Select NP_000097.3:p.Lys281del
NM_001025161.3:c.688_690del NP_001020332.2:p.Lys230del