Canonical Allele Identifier: CA10265052

Gene: CYP2D6

Linked Data

• dbSNP Id: rs72549356
• ExAC: 22:42524929 T / TGGGGCGAAA
• gnomAD v2: 22-42524929-T-TGGGGCGAAA
• gnomAD v3: 22-42128927-T-TGGGGCGAAA
• gnomAD v4: 22-42128927-T-TGGGGCGAAA
• MyVariant Identifiers: chr22:g.42524929_42524930insGGGGCGAAA (hg19) ; chr22:g.42128927_42128928insGGGGCGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128934_42128942dup , CM000684.2:g.42128934_42128942dup	GRCh38
NC_000022.10:g.42524936_42524944dup , CM000684.1:g.42524936_42524944dup	GRCh37
NC_000022.9:g.40854880_40854888dup	NCBI36
NG_008376.3:g.6056_6064dup
NG_008376.4:g.6875_6883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.361_369dup	ENSP00000353241.6:p.Pro123_Asn124insPheArgPro
ENST00000645361.2:c.514_522dup MANE Select	ENSP00000496150.1:p.Pro174_Asn175insPheArgPro
ENST00000359033.4:c.361_369dup	ENSP00000351927.4:p.Pro123_Asn124insPheArgPro
ENST00000360124.9:c.181_189dup	ENSP00000353241.5:p.Pro63_Asn64insPheArgPro
ENST00000360608.9:c.514_522dup	ENSP00000353820.5:p.Pro174_Asn175insPheArgPro
ENST00000389970.7:c.448_456dup	ENSP00000374620.4:p.Pro152_Asn153insPheArgPro
ENST00000488442.1:n.1238_1246dup
NM_000106.5:c.514_522dup	NP_000097.3:p.Pro174_Asn175insPheArgPro
NM_001025161.2:c.361_369dup	NP_001020332.2:p.Pro123_Asn124insPheArgPro
XM_011529966.1:c.514_522dup	XP_011528268.1:p.Pro174_Asn175insPheArgPro
XM_011529967.1:c.514_522dup	XP_011528269.1:p.Pro174_Asn175insPheArgPro
XM_011529968.1:c.514_522dup	XP_011528270.1:p.Pro174_Asn175insPheArgPro
XM_011529969.1:c.370_378dup	XP_011528271.1:p.Pro126_Asn127insPheArgPro
XM_011529970.1:c.361_369dup	XP_011528272.1:p.Pro123_Asn124insPheArgPro
XM_011529971.1:c.370_378dup	XP_011528273.1:p.Pro126_Asn127insPheArgPro
XM_011529972.1:c.514_522dup	XP_011528274.1:p.Pro174_Asn175insPheArgPro
NM_000106.6:c.514_522dup MANE Select	NP_000097.3:p.Pro174_Asn175insPheArgPro
NM_001025161.3:c.361_369dup	NP_001020332.2:p.Pro123_Asn124insPheArgPro