Canonical Allele Identifier: CA753328768

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1417638524
• gnomAD v3: 22-42128705-C-CTCTT
• gnomAD v4: 22-42128705-C-CTCTT
• MyVariant Identifiers: chr22:g.42128705_42128706insTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128706_42128709dup , CM000684.2:g.42128706_42128709dup	GRCh38
NC_000022.10:g.42524708_42524711dup , CM000684.1:g.42524708_42524711dup	GRCh37
NC_000022.9:g.40854652_40854655dup	NCBI36
NG_008376.3:g.6283_6286dup
NG_008376.4:g.7102_7105dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.513+75_513+78dup	ENSP00000353241.6:n.513+75_513+78dup
ENST00000645361.2:c.666+75_666+78dup MANE Select	ENSP00000496150.1:n.666+75_666+78dup
ENST00000359033.4:c.513+75_513+78dup	ENSP00000351927.4:n.513+75_513+78dup
ENST00000360124.9:c.333+75_333+78dup	ENSP00000353241.5:n.333+75_333+78dup
ENST00000360608.9:c.666+75_666+78dup	ENSP00000353820.5:n.666+75_666+78dup
ENST00000389970.7:c.600+75_600+78dup	ENSP00000374620.4:n.600+75_600+78dup
ENST00000488442.1:n.1390+75_1390+78dup
NM_000106.5:c.666+75_666+78dup	NP_000097.3:n.666+75_666+78dup
NM_001025161.2:c.513+75_513+78dup	NP_001020332.2:n.513+75_513+78dup
XM_011529966.1:c.666+75_666+78dup	XP_011528268.1:n.666+75_666+78dup
XM_011529967.1:c.666+75_666+78dup	XP_011528269.1:n.666+75_666+78dup
XM_011529968.1:c.666+75_666+78dup	XP_011528270.1:n.666+75_666+78dup
XM_011529969.1:c.522+75_522+78dup	XP_011528271.1:n.522+75_522+78dup
XM_011529970.1:c.513+75_513+78dup	XP_011528272.1:n.513+75_513+78dup
XM_011529971.1:c.522+75_522+78dup	XP_011528273.1:n.522+75_522+78dup
XM_011529972.1:c.666+75_666+78dup	XP_011528274.1:n.666+75_666+78dup
NM_000106.6:c.666+75_666+78dup MANE Select	NP_000097.3:n.666+75_666+78dup
NM_001025161.3:c.513+75_513+78dup	NP_001020332.2:n.513+75_513+78dup