Canonical Allele Identifier: CA10264651
Gene: CYP2D6 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127532_42127533dup , CM000684.2:g.42127532_42127533dup GRCh38
NC_000022.10:g.42523534_42523535dup , CM000684.1:g.42523534_42523535dup GRCh37
NC_000022.9:g.40853478_40853479dup NCBI36
NG_008376.3:g.7460_7461dup
NG_008376.4:g.8279_8280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.886_887dup ENSP00000353241.6:n.886_887dup
ENST00000645361.2:c.1088_1089dup MANE Select ENSP00000496150.1:p.Gln364CysfsTer12
ENST00000359033.4:c.935_936dup ENSP00000351927.4:p.Gln313CysfsTer12
ENST00000360124.9:c.706_707dup ENSP00000353241.5:n.706_707dup
ENST00000360608.9:c.1088_1089dup ENSP00000353820.5:p.Gln364CysfsTer12
ENST00000389970.7:c.1079_1080dup ENSP00000374620.4:p.Gln361CysfsTer12
ENST00000488442.1:n.1812_1813dup
NM_000106.5:c.1088_1089dup NP_000097.3:p.Gln364CysfsTer12
NM_001025161.2:c.935_936dup NP_001020332.2:p.Gln313CysfsTer12
XM_011529966.1:c.1088_1089dup XP_011528268.1:p.Gln364CysfsTer12
XM_011529967.1:c.1088_1089dup XP_011528269.1:p.Gln364CysfsTer12
XM_011529968.1:c.1088_1089dup XP_011528270.1:p.Gln364CysfsTer12
XM_011529969.1:c.944_945dup XP_011528271.1:p.Gln316CysfsTer12
XM_011529970.1:c.935_936dup XP_011528272.1:p.Gln313CysfsTer12
XM_011529971.1:c.944_945dup XP_011528273.1:p.Gln316CysfsTer12
XM_011529972.1:c.*73_*74dup XP_011528274.1:n.*73_*74dup
NM_000106.6:c.1088_1089dup MANE Select NP_000097.3:p.Gln364CysfsTer12
NM_001025161.3:c.935_936dup NP_001020332.2:p.Gln313CysfsTer12