Canonical Allele Identifier: CA324670867
Gene: CYP2D6 HGNC NCBI

Linked Data

dbSNP Id: rs72549351

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128203_42128206del , CM000684.2:g.42128203_42128206del GRCh38
NC_000022.10:g.42524205_42524208del , CM000684.1:g.42524205_42524208del GRCh37
NC_000022.9:g.40854149_40854152del NCBI36
NG_008376.3:g.6790_6793del
NG_008376.4:g.7609_7612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.662_665del ENSP00000353241.6:p.Thr221ArgfsTer12
ENST00000645361.2:c.815_818del MANE Select ENSP00000496150.1:p.Thr272ArgfsTer25
ENST00000359033.4:c.662_665del ENSP00000351927.4:p.Thr221ArgfsTer25
ENST00000360124.9:c.482_485del ENSP00000353241.5:p.Thr161ArgfsTer12
ENST00000360608.9:c.815_818del ENSP00000353820.5:p.Thr272ArgfsTer25
ENST00000389970.7:c.749_752del ENSP00000374620.4:p.Thr250ArgfsTer25
ENST00000488442.1:n.1539_1542del
NM_000106.5:c.815_818del NP_000097.3:p.Thr272ArgfsTer25
NM_001025161.2:c.662_665del NP_001020332.2:p.Thr221ArgfsTer25
XM_011529966.1:c.815_818del XP_011528268.1:p.Thr272ArgfsTer25
XM_011529967.1:c.815_818del XP_011528269.1:p.Thr272ArgfsTer25
XM_011529968.1:c.815_818del XP_011528270.1:p.Thr272ArgfsTer25
XM_011529969.1:c.671_674del XP_011528271.1:p.Thr224ArgfsTer25
XM_011529970.1:c.662_665del XP_011528272.1:p.Thr221ArgfsTer25
XM_011529971.1:c.671_674del XP_011528273.1:p.Thr224ArgfsTer25
XM_011529972.1:c.815_818del XP_011528274.1:p.Thr272ArgfsTer29
NM_000106.6:c.815_818del MANE Select NP_000097.3:p.Thr272ArgfsTer25
NM_001025161.3:c.662_665del NP_001020332.2:p.Thr221ArgfsTer25