Canonical Allele Identifier: CA753326984

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1234018474
• gnomAD v4: 22-42126628-GAC-G
• MyVariant Identifiers: chr22:g.42126629_42126630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126631_42126632del , CM000684.2:g.42126631_42126632del	GRCh38
NC_000022.10:g.42522633_42522634del , CM000684.1:g.42522633_42522634del	GRCh37
NC_000022.9:g.40852577_40852578del	NCBI36
NG_008376.3:g.8362_8363del
NG_008376.4:g.9181_9182del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1236_1237del	ENSP00000353241.6:n.1236_1237del
ENST00000645361.2:c.1438_1439del MANE Select	ENSP00000496150.1:p.Val480LeufsTer11
ENST00000359033.4:c.1285_1286del	ENSP00000351927.4:p.Val429LeufsTer11
ENST00000360124.9:c.1056_1057del	ENSP00000353241.5:n.1056_1057del
ENST00000360608.9:c.1438_1439del	ENSP00000353820.5:p.Val480LeufsTer11
ENST00000389970.7:c.1429_1430del	ENSP00000374620.4:p.Val477LeufsTer11
ENST00000488442.1:n.2162_2163del
NM_000106.5:c.1438_1439del	NP_000097.3:p.Val480LeufsTer11
NM_001025161.2:c.1285_1286del	NP_001020332.2:p.Val429LeufsTer11
XM_011529966.1:c.1438_1439del	XP_011528268.1:p.Val480LeufsTer21
XM_011529967.1:c.1438_1439del	XP_011528269.1:p.Val480LeufsTer21
XM_011529968.1:c.1438_1439del	XP_011528270.1:p.Val480LeufsTer?
XM_011529969.1:c.1294_1295del	XP_011528271.1:p.Val432LeufsTer21
XM_011529970.1:c.1285_1286del	XP_011528272.1:p.Val429LeufsTer21
XM_011529971.1:c.1294_1295del	XP_011528273.1:p.Val432LeufsTer11
NM_000106.6:c.1438_1439del MANE Select	NP_000097.3:p.Val480LeufsTer11
NM_001025161.3:c.1285_1286del	NP_001020332.2:p.Val429LeufsTer11