Canonical Allele Identifier: CA2819054045
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128267_42128268del , CM000684.2:g.42128267_42128268del GRCh38
NC_000022.10:g.42524269_42524270del , CM000684.1:g.42524269_42524270del GRCh37
NC_000022.9:g.40854213_40854214del NCBI36
NG_008376.3:g.6724_6725del
NG_008376.4:g.7543_7544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.596_597del ENSP00000353241.6:p.Gln199ProfsTer3
ENST00000645361.2:c.749_750del MANE Select ENSP00000496150.1:p.Gln250ProfsTer3
ENST00000359033.4:c.596_597del ENSP00000351927.4:p.Gln199ProfsTer3
ENST00000360124.9:c.416_417del ENSP00000353241.5:p.Gln139ProfsTer3
ENST00000360608.9:c.749_750del ENSP00000353820.5:p.Gln250ProfsTer3
ENST00000389970.7:c.683_684del ENSP00000374620.4:p.Gln228ProfsTer3
ENST00000488442.1:n.1473_1474del
NM_000106.5:c.749_750del NP_000097.3:p.Gln250ProfsTer3
NM_001025161.2:c.596_597del NP_001020332.2:p.Gln199ProfsTer3
XM_011529966.1:c.749_750del XP_011528268.1:p.Gln250ProfsTer3
XM_011529967.1:c.749_750del XP_011528269.1:p.Gln250ProfsTer3
XM_011529968.1:c.749_750del XP_011528270.1:p.Gln250ProfsTer3
XM_011529969.1:c.605_606del XP_011528271.1:p.Gln202ProfsTer3
XM_011529970.1:c.596_597del XP_011528272.1:p.Gln199ProfsTer3
XM_011529971.1:c.605_606del XP_011528273.1:p.Gln202ProfsTer3
XM_011529972.1:c.749_750del XP_011528274.1:p.Gln250ProfsTer3
NM_000106.6:c.749_750del MANE Select NP_000097.3:p.Gln250ProfsTer3
NM_001025161.3:c.596_597del NP_001020332.2:p.Gln199ProfsTer3