Canonical Allele Identifier: CA639828341

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1368414043
• gnomAD v2: 22-42526780-GCTT-G
• gnomAD v3: 22-42130778-GCTT-G
• gnomAD v4: 22-42130778-GCTT-G
• MyVariant Identifiers: chr22:g.42526781_42526783del (hg19) ; chr22:g.42130779_42130781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42130781_42130783del , CM000684.2:g.42130781_42130783del	GRCh38
NC_000022.10:g.42526783_42526785del , CM000684.1:g.42526783_42526785del	GRCh37
NC_000022.9:g.40856727_40856729del	NCBI36
NG_008376.3:g.4211_4213del
NG_008376.4:g.5030_5032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.11_13del	ENSP00000353241.6:p.Glu4del
ENST00000645361.2:c.11_13del MANE Select	ENSP00000496150.1:p.Glu4del
ENST00000359033.4:c.11_13del	ENSP00000351927.4:p.Glu4del
ENST00000360608.9:c.11_13del	ENSP00000353820.5:p.Glu4del
ENST00000389970.7:c.-56_-54del	ENSP00000374620.4:n.-56_-54del
ENST00000488442.1:n.33_35del
NM_000106.5:c.11_13del	NP_000097.3:p.Glu4del
NM_001025161.2:c.11_13del	NP_001020332.2:p.Glu4del
XM_011529966.1:c.11_13del	XP_011528268.1:p.Glu4del
XM_011529967.1:c.11_13del	XP_011528269.1:p.Glu4del
XM_011529968.1:c.11_13del	XP_011528270.1:p.Glu4del
XM_011529969.1:c.37+516_37+518del	XP_011528271.1:n.37+516_37+518del
XM_011529970.1:c.11_13del	XP_011528272.1:p.Glu4del
XM_011529971.1:c.37+516_37+518del	XP_011528273.1:n.37+516_37+518del
XM_011529972.1:c.11_13del	XP_011528274.1:p.Glu4del
XR_430455.2:n.328+93_328+95del
NM_000106.6:c.11_13del MANE Select	NP_000097.3:p.Glu4del
XR_002958749.1:n.275+93_275+95del
NM_001025161.3:c.11_13del	NP_001020332.2:p.Glu4del