Canonical Allele Identifier: CA639828511

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1192360203
• gnomAD v2: 22-42526600-ACCT-A
• MyVariant Identifiers: chr22:g.42526601_42526603del (hg19) ; chr22:g.42130599_42130601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42130604_42130606del , CM000684.2:g.42130604_42130606del	GRCh38
NC_000022.10:g.42526606_42526608del , CM000684.1:g.42526606_42526608del	GRCh37
NC_000022.9:g.40856550_40856552del	NCBI36
NG_008376.3:g.4391_4393del
NG_008376.4:g.5210_5212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.180+11_180+13del	ENSP00000353241.6:n.180+11_180+13del
ENST00000645361.2:c.180+11_180+13del MANE Select	ENSP00000496150.1:n.180+11_180+13del
ENST00000359033.4:c.180+11_180+13del	ENSP00000351927.4:n.180+11_180+13del
ENST00000360608.9:c.180+11_180+13del	ENSP00000353820.5:n.180+11_180+13del
ENST00000389970.7:c.114+11_114+13del	ENSP00000374620.4:n.114+11_114+13del
ENST00000488442.1:n.213_215del
NM_000106.5:c.180+11_180+13del	NP_000097.3:n.180+11_180+13del
NM_001025161.2:c.180+11_180+13del	NP_001020332.2:n.180+11_180+13del
XM_011529966.1:c.180+11_180+13del	XP_011528268.1:n.180+11_180+13del
XM_011529967.1:c.180+11_180+13del	XP_011528269.1:n.180+11_180+13del
XM_011529968.1:c.180+11_180+13del	XP_011528270.1:n.180+11_180+13del
XM_011529969.1:c.38-692_38-690del	XP_011528271.1:n.38-692_38-690del
XM_011529970.1:c.180+11_180+13del	XP_011528272.1:n.180+11_180+13del
XM_011529971.1:c.38-692_38-690del	XP_011528273.1:n.38-692_38-690del
XM_011529972.1:c.180+11_180+13del	XP_011528274.1:n.180+11_180+13del
XR_430455.2:n.244_246del
NM_000106.6:c.180+11_180+13del MANE Select	NP_000097.3:n.180+11_180+13del
XR_002958749.1:n.191_193del
NM_001025161.3:c.180+11_180+13del	NP_001020332.2:n.180+11_180+13del