Canonical Allele Identifier: CA235503
Gene: CYP2D6 HGNC NCBI

Linked Data

ClinVar Variation Id: 183389
ClinVar RCV Id: RCV000162203
dbSNP Id: rs730882170

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127846_42127864del , CM000684.2:g.42127846_42127864del GRCh38
NC_000022.10:g.42523848_42523866del , CM000684.1:g.42523848_42523866del GRCh37
NC_000022.9:g.40853792_40853810del NCBI36
NG_008376.3:g.7128_7146del
NG_008376.4:g.7947_7965del

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.761_779del ENSP00000353241.6:n.761_779del
ENST00000645361.2:c.963_981del MANE Select ENSP00000496150.1:p.Met321IlefsTer12
ENST00000359033.4:c.810_828del ENSP00000351927.4:p.Met270IlefsTer12
ENST00000360124.9:c.581_599del ENSP00000353241.5:n.581_599del
ENST00000360608.9:c.963_981del ENSP00000353820.5:p.Met321IlefsTer12
ENST00000389970.7:c.897_915del ENSP00000374620.4:p.Met299IlefsTer?
ENST00000488442.1:n.1687_1705del
NM_000106.5:c.963_981del NP_000097.3:p.Met321IlefsTer12
NM_001025161.2:c.810_828del NP_001020332.2:p.Met270IlefsTer12
XM_011529966.1:c.963_981del XP_011528268.1:p.Met321IlefsTer12
XM_011529967.1:c.963_981del XP_011528269.1:p.Met321IlefsTer12
XM_011529968.1:c.963_981del XP_011528270.1:p.Met321IlefsTer12
XM_011529969.1:c.819_837del XP_011528271.1:p.Met273IlefsTer12
XM_011529970.1:c.810_828del XP_011528272.1:p.Met270IlefsTer12
XM_011529971.1:c.819_837del XP_011528273.1:p.Met273IlefsTer12
XM_011529972.1:c.844-230_844-212del XP_011528274.1:n.844-230_844-212del
NM_000106.6:c.963_981del MANE Select NP_000097.3:p.Met321IlefsTer12
NM_001025161.3:c.810_828del NP_001020332.2:p.Met270IlefsTer12