Canonical Allele Identifier: CA639828327

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1214476453
• gnomAD v2: 22-42525091-TCCAGCGACTTCTTGC-T
• gnomAD v4: 22-42129089-TCCAGCGACTTCTTGC-T
• MyVariant Identifiers: chr22:g.42525092_42525106del (hg19) ; chr22:g.42129090_42129104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129094_42129108del , CM000684.2:g.42129094_42129108del	GRCh38
NC_000022.10:g.42525096_42525110del , CM000684.1:g.42525096_42525110del	GRCh37
NC_000022.9:g.40855040_40855054del	NCBI36
NG_008376.3:g.5888_5902del
NG_008376.4:g.6707_6721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.353-160_353-146del	ENSP00000353241.6:n.353-160_353-146del
ENST00000645361.2:c.434_448del MANE Select	ENSP00000496150.1:p.Gly145_Leu149del
ENST00000359033.4:c.353-160_353-146del	ENSP00000351927.4:n.353-160_353-146del
ENST00000360124.9:c.173-160_173-146del	ENSP00000353241.5:n.173-160_173-146del
ENST00000360608.9:c.434_448del	ENSP00000353820.5:p.Gly145_Leu149del
ENST00000389970.7:c.368_382del	ENSP00000374620.4:p.Gly123_Leu127del
ENST00000488442.1:n.1158_1172del
NM_000106.5:c.434_448del	NP_000097.3:p.Gly145_Leu149del
NM_001025161.2:c.353-160_353-146del	NP_001020332.2:n.353-160_353-146del
XM_011529966.1:c.434_448del	XP_011528268.1:p.Gly145_Leu149del
XM_011529967.1:c.434_448del	XP_011528269.1:p.Gly145_Leu149del
XM_011529968.1:c.434_448del	XP_011528270.1:p.Gly145_Leu149del
XM_011529969.1:c.291_305del	XP_011528271.1:p.Gln98_Gly102del
XM_011529970.1:c.353-160_353-146del	XP_011528272.1:n.353-160_353-146del
XM_011529971.1:c.291_305del	XP_011528273.1:p.Gln98_Gly102del
XM_011529972.1:c.434_448del	XP_011528274.1:p.Gly145_Leu149del
NM_000106.6:c.434_448del MANE Select	NP_000097.3:p.Gly145_Leu149del
NM_001025161.3:c.353-160_353-146del	NP_001020332.2:n.353-160_353-146del