Canonical Allele Identifier: CA324671703

Gene: CYP2D6

Linked Data

• dbSNP Id: rs529375661
• gnomAD v2: 22-42524648-CCTT-C
• gnomAD v3: 22-42128646-CCTT-C
• gnomAD v4: 22-42128646-CCTT-C
• MyVariant Identifiers: chr22:g.42524649_42524651del (hg19) ; chr22:g.42128647_42128649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128650_42128652del , CM000684.2:g.42128650_42128652del	GRCh38
NC_000022.10:g.42524652_42524654del , CM000684.1:g.42524652_42524654del	GRCh37
NC_000022.9:g.40854596_40854598del	NCBI36
NG_008376.3:g.6343_6345del
NG_008376.4:g.7162_7164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.513+135_513+137del	ENSP00000353241.6:n.513+135_513+137del
ENST00000645361.2:c.666+135_666+137del MANE Select	ENSP00000496150.1:n.666+135_666+137del
ENST00000359033.4:c.513+135_513+137del	ENSP00000351927.4:n.513+135_513+137del
ENST00000360124.9:c.333+135_333+137del	ENSP00000353241.5:n.333+135_333+137del
ENST00000360608.9:c.666+135_666+137del	ENSP00000353820.5:n.666+135_666+137del
ENST00000389970.7:c.600+135_600+137del	ENSP00000374620.4:n.600+135_600+137del
ENST00000488442.1:n.1390+135_1390+137del
NM_000106.5:c.666+135_666+137del	NP_000097.3:n.666+135_666+137del
NM_001025161.2:c.513+135_513+137del	NP_001020332.2:n.513+135_513+137del
XM_011529966.1:c.666+135_666+137del	XP_011528268.1:n.666+135_666+137del
XM_011529967.1:c.666+135_666+137del	XP_011528269.1:n.666+135_666+137del
XM_011529968.1:c.666+135_666+137del	XP_011528270.1:n.666+135_666+137del
XM_011529969.1:c.522+135_522+137del	XP_011528271.1:n.522+135_522+137del
XM_011529970.1:c.513+135_513+137del	XP_011528272.1:n.513+135_513+137del
XM_011529971.1:c.522+135_522+137del	XP_011528273.1:n.522+135_522+137del
XM_011529972.1:c.666+135_666+137del	XP_011528274.1:n.666+135_666+137del
NM_000106.6:c.666+135_666+137del MANE Select	NP_000097.3:n.666+135_666+137del
NM_001025161.3:c.513+135_513+137del	NP_001020332.2:n.513+135_513+137del