Canonical Allele Identifier: CA10265078

Gene: CYP2D6

Linked Data

• dbSNP Id: rs750569685
• ExAC: 22:42524998 CCAGTTCCCGCTTTGT / C
• gnomAD v2: 22-42524998-CCAGTTCCCGCTTTGT-C
• gnomAD v3: 22-42128996-CCAGTTCCCGCTTTGT-C
• gnomAD v4: 22-42128996-CCAGTTCCCGCTTTGT-C
• MyVariant Identifiers: chr22:g.42524999_42525013del (hg19) ; chr22:g.42128997_42129011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128997_42129011del , CM000684.2:g.42128997_42129011del	GRCh38
NC_000022.10:g.42524999_42525013del , CM000684.1:g.42524999_42525013del	GRCh37
NC_000022.9:g.40854943_40854957del	NCBI36
NG_008376.3:g.5981_5995del
NG_008376.4:g.6800_6814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.353-67_353-53del	ENSP00000353241.6:n.353-67_353-53del
ENST00000645361.2:c.505+22_505+36del MANE Select	ENSP00000496150.1:n.505+22_505+36del
ENST00000359033.4:c.353-67_353-53del	ENSP00000351927.4:n.353-67_353-53del
ENST00000360124.9:c.173-67_173-53del	ENSP00000353241.5:n.173-67_173-53del
ENST00000360608.9:c.505+22_505+36del	ENSP00000353820.5:n.505+22_505+36del
ENST00000389970.7:c.439+22_439+36del	ENSP00000374620.4:n.439+22_439+36del
ENST00000488442.1:n.1229+22_1229+36del
NM_000106.5:c.505+22_505+36del	NP_000097.3:n.505+22_505+36del
NM_001025161.2:c.353-67_353-53del	NP_001020332.2:n.353-67_353-53del
XM_011529966.1:c.505+22_505+36del	XP_011528268.1:n.505+22_505+36del
XM_011529967.1:c.505+22_505+36del	XP_011528269.1:n.505+22_505+36del
XM_011529968.1:c.505+22_505+36del	XP_011528270.1:n.505+22_505+36del
XM_011529969.1:c.362+22_362+36del	XP_011528271.1:n.362+22_362+36del
XM_011529970.1:c.353-67_353-53del	XP_011528272.1:n.353-67_353-53del
XM_011529971.1:c.362+22_362+36del	XP_011528273.1:n.362+22_362+36del
XM_011529972.1:c.505+22_505+36del	XP_011528274.1:n.505+22_505+36del
NM_000106.6:c.505+22_505+36del MANE Select	NP_000097.3:n.505+22_505+36del
NM_001025161.3:c.353-67_353-53del	NP_001020332.2:n.353-67_353-53del