Canonical Allele Identifier: CA2657031238

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127798-C-CCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127802_42127805dup , CM000684.2:g.42127802_42127805dup	GRCh38
NC_000022.10:g.42523804_42523807dup , CM000684.1:g.42523804_42523807dup	GRCh37
NC_000022.9:g.40853748_40853751dup	NCBI36
NG_008376.3:g.7190_7193dup
NG_008376.4:g.8009_8012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.783+40_783+43dup	ENSP00000353241.6:n.783+40_783+43dup
ENST00000645361.2:c.985+40_985+43dup MANE Select	ENSP00000496150.1:n.985+40_985+43dup
ENST00000359033.4:c.832+40_832+43dup	ENSP00000351927.4:n.832+40_832+43dup
ENST00000360124.9:c.603+40_603+43dup	ENSP00000353241.5:n.603+40_603+43dup
ENST00000360608.9:c.985+40_985+43dup	ENSP00000353820.5:n.985+40_985+43dup
ENST00000389970.7:c.927_930dup	ENSP00000374620.4:p.Val311LysfsTer?
ENST00000488442.1:n.1709+40_1709+43dup
NM_000106.5:c.985+40_985+43dup	NP_000097.3:n.985+40_985+43dup
NM_001025161.2:c.832+40_832+43dup	NP_001020332.2:n.832+40_832+43dup
XM_011529966.1:c.985+40_985+43dup	XP_011528268.1:n.985+40_985+43dup
XM_011529967.1:c.985+40_985+43dup	XP_011528269.1:n.985+40_985+43dup
XM_011529968.1:c.985+40_985+43dup	XP_011528270.1:n.985+40_985+43dup
XM_011529969.1:c.841+40_841+43dup	XP_011528271.1:n.841+40_841+43dup
XM_011529970.1:c.832+40_832+43dup	XP_011528272.1:n.832+40_832+43dup
XM_011529971.1:c.841+40_841+43dup	XP_011528273.1:n.841+40_841+43dup
XM_011529972.1:c.844-168_844-165dup	XP_011528274.1:n.844-168_844-165dup
NM_000106.6:c.985+40_985+43dup MANE Select	NP_000097.3:n.985+40_985+43dup
NM_001025161.3:c.832+40_832+43dup	NP_001020332.2:n.832+40_832+43dup