Canonical Allele Identifier: CA2657032130
Gene: CYP2D6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128264_42128265del , CM000684.2:g.42128264_42128265del GRCh38
NC_000022.10:g.42524266_42524267del , CM000684.1:g.42524266_42524267del GRCh37
NC_000022.9:g.40854210_40854211del NCBI36
NG_008376.3:g.6727_6728del
NG_008376.4:g.7546_7547del

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.599_600del ENSP00000353241.6:p.Leu200ArgfsTer2
ENST00000645361.2:c.752_753del MANE Select ENSP00000496150.1:p.Leu251ArgfsTer2
ENST00000359033.4:c.599_600del ENSP00000351927.4:p.Leu200ArgfsTer2
ENST00000360124.9:c.419_420del ENSP00000353241.5:p.Leu140ArgfsTer2
ENST00000360608.9:c.752_753del ENSP00000353820.5:p.Leu251ArgfsTer2
ENST00000389970.7:c.686_687del ENSP00000374620.4:p.Leu229ArgfsTer2
ENST00000488442.1:n.1476_1477del
NM_000106.5:c.752_753del NP_000097.3:p.Leu251ArgfsTer2
NM_001025161.2:c.599_600del NP_001020332.2:p.Leu200ArgfsTer2
XM_011529966.1:c.752_753del XP_011528268.1:p.Leu251ArgfsTer2
XM_011529967.1:c.752_753del XP_011528269.1:p.Leu251ArgfsTer2
XM_011529968.1:c.752_753del XP_011528270.1:p.Leu251ArgfsTer2
XM_011529969.1:c.608_609del XP_011528271.1:p.Leu203ArgfsTer2
XM_011529970.1:c.599_600del XP_011528272.1:p.Leu200ArgfsTer2
XM_011529971.1:c.608_609del XP_011528273.1:p.Leu203ArgfsTer2
XM_011529972.1:c.752_753del XP_011528274.1:p.Leu251ArgfsTer2
NM_000106.6:c.752_753del MANE Select NP_000097.3:p.Leu251ArgfsTer2
NM_001025161.3:c.599_600del NP_001020332.2:p.Leu200ArgfsTer2