Canonical Allele Identifier: CA2577737153
Gene: CYP2D6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127982del , CM000684.2:g.42127982del GRCh38
NC_000022.10:g.42523984del , CM000684.1:g.42523984del GRCh37
NC_000022.9:g.40853928del NCBI36
NG_008376.3:g.7011del
NG_008376.4:g.7830del

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.691-47del ENSP00000353241.6:n.691-47del
ENST00000645361.2:c.846del MANE Select ENSP00000496150.1:p.Lys283ArgfsTer15
ENST00000359033.4:c.693del ENSP00000351927.4:p.Lys232ArgfsTer15
ENST00000360124.9:c.511-47del ENSP00000353241.5:n.511-47del
ENST00000360608.9:c.846del ENSP00000353820.5:p.Lys283ArgfsTer15
ENST00000389970.7:c.780del ENSP00000374620.4:p.Lys261ArgfsTer15
ENST00000488442.1:n.1570del
NM_000106.5:c.846del NP_000097.3:p.Lys283ArgfsTer15
NM_001025161.2:c.693del NP_001020332.2:p.Lys232ArgfsTer15
XM_011529966.1:c.846del XP_011528268.1:p.Lys283ArgfsTer15
XM_011529967.1:c.846del XP_011528269.1:p.Lys283ArgfsTer15
XM_011529968.1:c.846del XP_011528270.1:p.Lys283ArgfsTer15
XM_011529969.1:c.702del XP_011528271.1:p.Lys235ArgfsTer15
XM_011529970.1:c.693del XP_011528272.1:p.Lys232ArgfsTer15
XM_011529971.1:c.702del XP_011528273.1:p.Lys235ArgfsTer15
XM_011529972.1:c.843+193del XP_011528274.1:n.843+193del
NM_000106.6:c.846del MANE Select NP_000097.3:p.Lys283ArgfsTer15
NM_001025161.3:c.693del NP_001020332.2:p.Lys232ArgfsTer15