Canonical Allele Identifier: CA1025920610

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1930942240
• gnomAD v3: 22-42126624-C-CAAAG
• gnomAD v4: 22-42126624-C-CAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126626_42126629dup , CM000684.2:g.42126626_42126629dup	GRCh38
NC_000022.10:g.42522628_42522631dup , CM000684.1:g.42522628_42522631dup	GRCh37
NC_000022.9:g.40852572_40852575dup	NCBI36
NG_008376.3:g.8364_8367dup
NG_008376.4:g.9183_9186dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1238_1241dup	ENSP00000353241.6:n.1238_1241dup
ENST00000645361.2:c.1440_1443dup MANE Select	ENSP00000496150.1:p.Ala482LeufsTer11
ENST00000359033.4:c.1287_1290dup	ENSP00000351927.4:p.Ala431LeufsTer11
ENST00000360124.9:c.1058_1061dup	ENSP00000353241.5:n.1058_1061dup
ENST00000360608.9:c.1440_1443dup	ENSP00000353820.5:p.Ala482LeufsTer11
ENST00000389970.7:c.1431_1434dup	ENSP00000374620.4:p.Ala479LeufsTer11
ENST00000488442.1:n.2164_2167dup
NM_000106.5:c.1440_1443dup	NP_000097.3:p.Ala482LeufsTer11
NM_001025161.2:c.1287_1290dup	NP_001020332.2:p.Ala431LeufsTer11
XM_011529966.1:c.1440_1443dup	XP_011528268.1:p.Ala482LeufsTer21
XM_011529967.1:c.1440_1443dup	XP_011528269.1:p.Ala482LeufsTer21
XM_011529968.1:c.1440_1443dup	XP_011528270.1:p.Ala482LeufsTer?
XM_011529969.1:c.1296_1299dup	XP_011528271.1:p.Ala434LeufsTer21
XM_011529970.1:c.1287_1290dup	XP_011528272.1:p.Ala431LeufsTer21
XM_011529971.1:c.1296_1299dup	XP_011528273.1:p.Ala434LeufsTer11
NM_000106.6:c.1440_1443dup MANE Select	NP_000097.3:p.Ala482LeufsTer11
NM_001025161.3:c.1287_1290dup	NP_001020332.2:p.Ala431LeufsTer11