Canonical Allele Identifier: CA2554407148

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127576-ACCCATCTCTGGTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127579_42127592del , CM000684.2:g.42127579_42127592del	GRCh38
NC_000022.10:g.42523581_42523594del , CM000684.1:g.42523581_42523594del	GRCh37
NC_000022.9:g.40853525_40853538del	NCBI36
NG_008376.3:g.7402_7415del
NG_008376.4:g.8221_8234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.828_841del	ENSP00000353241.6:n.828_841del
ENST00000645361.2:c.1030_1043del MANE Select	ENSP00000496150.1:p.Arg344Ter
ENST00000359033.4:c.877_890del	ENSP00000351927.4:p.Arg293Ter
ENST00000360124.9:c.648_661del	ENSP00000353241.5:n.648_661del
ENST00000360608.9:c.1030_1043del	ENSP00000353820.5:p.Arg344Ter
ENST00000389970.7:c.1021_1034del	ENSP00000374620.4:p.Arg341Ter
ENST00000488442.1:n.1754_1767del
NM_000106.5:c.1030_1043del	NP_000097.3:p.Arg344Ter
NM_001025161.2:c.877_890del	NP_001020332.2:p.Arg293Ter
XM_011529966.1:c.1030_1043del	XP_011528268.1:p.Arg344Ter
XM_011529967.1:c.1030_1043del	XP_011528269.1:p.Arg344Ter
XM_011529968.1:c.1030_1043del	XP_011528270.1:p.Arg344Ter
XM_011529969.1:c.886_899del	XP_011528271.1:p.Arg296Ter
XM_011529970.1:c.877_890del	XP_011528272.1:p.Arg293Ter
XM_011529971.1:c.886_899del	XP_011528273.1:p.Arg296Ter
XM_011529972.1:c.*15_*28del	XP_011528274.1:n.*15_*28del
NM_000106.6:c.1030_1043del MANE Select	NP_000097.3:p.Arg344Ter
NM_001025161.3:c.877_890del	NP_001020332.2:p.Arg293Ter