Canonical Allele Identifier: CA639827957

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1319360047
• gnomAD v2: 22-42524264-TCCAGC-T
• gnomAD v4: 22-42128262-TCCAGC-T
• MyVariant Identifiers: chr22:g.42524265_42524269del (hg19) ; chr22:g.42128263_42128267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128263_42128267del , CM000684.2:g.42128263_42128267del	GRCh38
NC_000022.10:g.42524265_42524269del , CM000684.1:g.42524265_42524269del	GRCh37
NC_000022.9:g.40854209_40854213del	NCBI36
NG_008376.3:g.6725_6729del
NG_008376.4:g.7544_7548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.597_601del	ENSP00000353241.6:p.Leu200Ter
ENST00000645361.2:c.750_754del MANE Select	ENSP00000496150.1:p.Leu251Ter
ENST00000359033.4:c.597_601del	ENSP00000351927.4:p.Leu200Ter
ENST00000360124.9:c.417_421del	ENSP00000353241.5:p.Leu140Ter
ENST00000360608.9:c.750_754del	ENSP00000353820.5:p.Leu251Ter
ENST00000389970.7:c.684_688del	ENSP00000374620.4:p.Leu229Ter
ENST00000488442.1:n.1474_1478del
NM_000106.5:c.750_754del	NP_000097.3:p.Leu251Ter
NM_001025161.2:c.597_601del	NP_001020332.2:p.Leu200Ter
XM_011529966.1:c.750_754del	XP_011528268.1:p.Leu251Ter
XM_011529967.1:c.750_754del	XP_011528269.1:p.Leu251Ter
XM_011529968.1:c.750_754del	XP_011528270.1:p.Leu251Ter
XM_011529969.1:c.606_610del	XP_011528271.1:p.Leu203Ter
XM_011529970.1:c.597_601del	XP_011528272.1:p.Leu200Ter
XM_011529971.1:c.606_610del	XP_011528273.1:p.Leu203Ter
XM_011529972.1:c.750_754del	XP_011528274.1:p.Leu251Ter
NM_000106.6:c.750_754del MANE Select	NP_000097.3:p.Leu251Ter
NM_001025161.3:c.597_601del	NP_001020332.2:p.Leu200Ter