Canonical Allele Identifier: CA10265041

Gene: CYP2D6

Linked Data

• dbSNP Id: rs774778807
• ExAC: 22:42524903 GCTC / G
• gnomAD v2: 22-42524903-GCTC-G
• gnomAD v3: 22-42128901-GCTC-G
• gnomAD v4: 22-42128901-GCTC-G
• MyVariant Identifiers: chr22:g.42524904_42524906del (hg19) ; chr22:g.42128902_42128904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128902_42128904del , CM000684.2:g.42128902_42128904del	GRCh38
NC_000022.10:g.42524904_42524906del , CM000684.1:g.42524904_42524906del	GRCh37
NC_000022.9:g.40854848_40854850del	NCBI36
NG_008376.3:g.6088_6090del
NG_008376.4:g.6907_6909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.393_395del	ENSP00000353241.6:p.Ser132del
ENST00000645361.2:c.546_548del MANE Select	ENSP00000496150.1:p.Ser183del
ENST00000359033.4:c.393_395del	ENSP00000351927.4:p.Ser132del
ENST00000360124.9:c.213_215del	ENSP00000353241.5:p.Ser72del
ENST00000360608.9:c.546_548del	ENSP00000353820.5:p.Ser183del
ENST00000389970.7:c.480_482del	ENSP00000374620.4:p.Ser161del
ENST00000488442.1:n.1270_1272del
NM_000106.5:c.546_548del	NP_000097.3:p.Ser183del
NM_001025161.2:c.393_395del	NP_001020332.2:p.Ser132del
XM_011529966.1:c.546_548del	XP_011528268.1:p.Ser183del
XM_011529967.1:c.546_548del	XP_011528269.1:p.Ser183del
XM_011529968.1:c.546_548del	XP_011528270.1:p.Ser183del
XM_011529969.1:c.402_404del	XP_011528271.1:p.Ser135del
XM_011529970.1:c.393_395del	XP_011528272.1:p.Ser132del
XM_011529971.1:c.402_404del	XP_011528273.1:p.Ser135del
XM_011529972.1:c.546_548del	XP_011528274.1:p.Ser183del
NM_000106.6:c.546_548del MANE Select	NP_000097.3:p.Ser183del
NM_001025161.3:c.393_395del	NP_001020332.2:p.Ser132del