Canonical Allele Identifier: CA10264907

Gene: CYP2D6

Linked Data

• dbSNP Id: rs777691989
• ExAC: 22:42524326 CAGG / C
• gnomAD v2: 22-42524326-CAGG-C
• gnomAD v3: 22-42128324-CAGG-C
• gnomAD v4: 22-42128324-CAGG-C
• MyVariant Identifiers: chr22:g.42524327_42524329del (hg19) ; chr22:g.42128325_42128327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128329_42128331del , CM000684.2:g.42128329_42128331del	GRCh38
NC_000022.10:g.42524331_42524333del , CM000684.1:g.42524331_42524333del	GRCh37
NC_000022.9:g.40854275_40854277del	NCBI36
NG_008376.3:g.6665_6667del
NG_008376.4:g.7484_7486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.537_539del	ENSP00000353241.6:p.Leu180del
ENST00000645361.2:c.690_692del MANE Select	ENSP00000496150.1:p.Leu231del
ENST00000359033.4:c.537_539del	ENSP00000351927.4:p.Leu180del
ENST00000360124.9:c.357_359del	ENSP00000353241.5:p.Leu120del
ENST00000360608.9:c.690_692del	ENSP00000353820.5:p.Leu231del
ENST00000389970.7:c.624_626del	ENSP00000374620.4:p.Leu209del
ENST00000488442.1:n.1414_1416del
NM_000106.5:c.690_692del	NP_000097.3:p.Leu231del
NM_001025161.2:c.537_539del	NP_001020332.2:p.Leu180del
XM_011529966.1:c.690_692del	XP_011528268.1:p.Leu231del
XM_011529967.1:c.690_692del	XP_011528269.1:p.Leu231del
XM_011529968.1:c.690_692del	XP_011528270.1:p.Leu231del
XM_011529969.1:c.546_548del	XP_011528271.1:p.Leu183del
XM_011529970.1:c.537_539del	XP_011528272.1:p.Leu180del
XM_011529971.1:c.546_548del	XP_011528273.1:p.Leu183del
XM_011529972.1:c.690_692del	XP_011528274.1:p.Leu231del
NM_000106.6:c.690_692del MANE Select	NP_000097.3:p.Leu231del
NM_001025161.3:c.537_539del	NP_001020332.2:p.Leu180del