Canonical Allele Identifier: CA3244221651
Community Standard Title: NM_000106.6(CYP2D6):c.765_768dup (p.Glu257AsnfsTer2)
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128251_42128254dup , CM000684.2:g.42128251_42128254dup GRCh38
NC_000022.10:g.42524253_42524256dup , CM000684.1:g.42524253_42524256dup GRCh37
NC_000022.9:g.40854197_40854200dup NCBI36
NG_008376.3:g.6740_6743dup
NG_008376.4:g.7559_7562dup

Transcript Alleles

HGVS Amino-acid Change
NM_000106.6:c.765_768dup MANE Select NP_000097.3:p.Glu257AsnfsTer2
ENST00000645361.2:c.765_768dup MANE Select ENSP00000496150.1:p.Glu257AsnfsTer2
NM_000106.5:c.765_768dup NP_000097.3:p.Glu257AsnfsTer2
NM_001025161.2:c.612_615dup NP_001020332.2:p.Glu206AsnfsTer2
NM_001025161.3:c.612_615dup NP_001020332.2:p.Glu206AsnfsTer2
ENST00000359033.4:c.612_615dup ENSP00000351927.4:p.Glu206AsnfsTer2
ENST00000360124.10:c.612_615dup ENSP00000353241.6:p.Glu206AsnfsTer2
ENST00000360124.9:c.432_435dup ENSP00000353241.5:p.Glu146AsnfsTer2
ENST00000360608.9:c.765_768dup ENSP00000353820.5:p.Glu257AsnfsTer2
ENST00000389970.7:c.699_702dup ENSP00000374620.4:p.Glu235AsnfsTer2
ENST00000488442.1:n.1489_1492dup
XM_011529966.1:c.765_768dup XP_011528268.1:p.Glu257AsnfsTer2
XM_011529967.1:c.765_768dup XP_011528269.1:p.Glu257AsnfsTer2
XM_011529968.1:c.765_768dup XP_011528270.1:p.Glu257AsnfsTer2
XM_011529969.1:c.621_624dup XP_011528271.1:p.Glu209AsnfsTer2
XM_011529970.1:c.612_615dup XP_011528272.1:p.Glu206AsnfsTer2
XM_011529971.1:c.621_624dup XP_011528273.1:p.Glu209AsnfsTer2
XM_011529972.1:c.765_768dup XP_011528274.1:p.Glu257AsnfsTer2