Canonical Allele Identifier: CA2396125188

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19962578_19962587delinsCTGCTGGTGG , CM000684.2:g.19962578_19962587delinsCTGCTGGTGG	GRCh38
NC_000022.10:g.19950101_19950110delinsCTGCTGGTGG , CM000684.1:g.19950101_19950110delinsCTGCTGGTGG	GRCh37
NC_000022.9:g.18330101_18330110delinsCTGCTGGTGG	NCBI36
NG_011526.1:g.25839_25848delinsCTGCTGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.52_61delinsCTGCTGGTGG MANE Select	ENSP00000354511.6:p.Leu18=
ENST00000428707.2:c.52_61delinsCTGCTGGTGG	ENSP00000387695.2:p.Leu18=
ENST00000676678.1:c.52_61delinsCTGCTGGTGG	ENSP00000503719.1:p.Leu18=
ENST00000678255.1:c.52_61delinsCTGCTGGTGG	ENSP00000504402.1:p.Leu18=
ENST00000678769.1:c.52_61delinsCTGCTGGTGG	ENSP00000503289.1:p.Leu18=
ENST00000678868.1:c.52_61delinsCTGCTGGTGG	ENSP00000503583.1:p.Leu18=
ENST00000207636.9:c.52_61delinsCTGCTGGTGG	ENSP00000207636.5:p.Leu18=
ENST00000361682.10:c.52_61delinsCTGCTGGTGG	ENSP00000354511.6:p.Leu18=
ENST00000403184.5:c.52_61delinsCTGCTGGTGG	ENSP00000383966.1:p.Leu18=
ENST00000403710.5:c.52_61delinsCTGCTGGTGG	ENSP00000385917.1:p.Leu18=
ENST00000406520.7:c.52_61delinsCTGCTGGTGG	ENSP00000385150.3:p.Leu18=
ENST00000407537.5:c.52_61delinsCTGCTGGTGG	ENSP00000384654.2:p.Leu18=
ENST00000412786.5:c.52_61delinsCTGCTGGTGG	ENSP00000403958.1:p.Leu18=
ENST00000449653.5:c.-99_-90delinsCTGCTGGTGG	ENSP00000416778.1:n.-99_-90delinsCTGCTGGTGG
ENST00000467943.5:n.248_257delinsCTGCTGGTGG
NM_000754.3:c.52_61delinsCTGCTGGTGG	NP_000745.1:p.Leu18=
NM_001135161.1:c.52_61delinsCTGCTGGTGG	NP_001128633.1:p.Leu18=
NM_001135162.1:c.52_61delinsCTGCTGGTGG	NP_001128634.1:p.Leu18=
NM_007310.2:c.-99_-90delinsCTGCTGGTGG	NP_009294.1:n.-99_-90delinsCTGCTGGTGG
XM_011529885.1:c.166_175delinsCTGCTGGTGG	XP_011528187.1:p.Leu56=
XM_011529886.1:c.166_175delinsCTGCTGGTGG	XP_011528188.1:p.Leu56=
XM_011529887.1:c.52_61delinsCTGCTGGTGG	XP_011528189.1:p.Leu18=
XM_011529888.1:c.52_61delinsCTGCTGGTGG	XP_011528190.1:p.Leu18=
XM_011529889.1:c.52_61delinsCTGCTGGTGG	XP_011528191.1:p.Leu18=
XM_011529890.1:c.52_61delinsCTGCTGGTGG	XP_011528192.1:p.Leu18=
XM_011529891.1:c.52_61delinsCTGCTGGTGG	XP_011528193.1:p.Leu18=
NM_001362828.1:c.52_61delinsCTGCTGGTGG	NP_001349757.1:p.Leu18=
XM_011529886.2:c.463_472delinsCTGCTGGTGG	XP_011528188.2:p.Leu155=
XM_017028595.1:c.52_61delinsCTGCTGGTGG	XP_016884084.1:p.Leu18=
NM_000754.4:c.52_61delinsCTGCTGGTGG MANE Select	NP_000745.1:p.Leu18=
NM_001135161.2:c.52_61delinsCTGCTGGTGG	NP_001128633.1:p.Leu18=
NM_001135162.2:c.52_61delinsCTGCTGGTGG	NP_001128634.1:p.Leu18=
NM_001362828.2:c.52_61delinsCTGCTGGTGG	NP_001349757.1:p.Leu18=
NM_007310.3:c.-99_-90delinsCTGCTGGTGG	NP_009294.1:n.-99_-90delinsCTGCTGGTGG