Canonical Allele Identifier: CA2580099116

Gene: COMT

Linked Data

• ClinVar Variation Id: 2500149
• ClinVar RCV Id: RCV003224777

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964259_19964260insT , CM000684.2:g.19964259_19964260insT	GRCh38
NC_000022.10:g.19951782_19951783insT , CM000684.1:g.19951782_19951783insT	GRCh37
NC_000022.9:g.18331782_18331783insT	NCBI36
NG_011526.1:g.27520_27521insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.575_576insT MANE Select	ENSP00000354511.6:p.Trp193LeufsTer27
ENST00000428707.2:c.575_576insT	ENSP00000387695.2:p.Trp193LeufsTer24
ENST00000676678.1:c.575_576insT	ENSP00000503719.1:p.Trp193LeufsTer27
ENST00000677397.1:c.425_426insT	ENSP00000503422.1:p.Trp143LeufsTer24
ENST00000677470.1:n.425_426insT
ENST00000677564.1:n.358_359insT
ENST00000677675.1:n.375_376insT
ENST00000678240.1:n.423_424insT
ENST00000678255.1:c.575_576insT	ENSP00000504402.1:p.Trp193LeufsTer27
ENST00000678769.1:c.575_576insT	ENSP00000503289.1:p.Trp193LeufsTer?
ENST00000678868.1:c.575_576insT	ENSP00000503583.1:p.Trp193LeufsTer27
ENST00000678945.1:n.443_444insT
ENST00000207636.9:c.*33_*34insT	ENSP00000207636.5:n.*33_*34insT
ENST00000361682.10:c.575_576insT	ENSP00000354511.6:p.Trp193LeufsTer27
ENST00000403184.5:c.575_576insT	ENSP00000383966.1:p.Trp193LeufsTer?
ENST00000403710.5:c.575_576insT	ENSP00000385917.1:p.Trp193LeufsTer27
ENST00000406520.7:c.575_576insT	ENSP00000385150.3:p.Trp193LeufsTer27
ENST00000407537.5:c.575_576insT	ENSP00000384654.2:p.Trp193LeufsTer27
ENST00000412786.5:c.575_576insT	ENSP00000403958.1:p.Trp193LeufsTer27
ENST00000428707.1:c.153_154insT
ENST00000449653.5:c.425_426insT	ENSP00000416778.1:p.Trp143LeufsTer27
ENST00000493893.1:n.313_314insT
NM_000754.3:c.575_576insT	NP_000745.1:p.Trp193LeufsTer27
NM_001135161.1:c.575_576insT	NP_001128633.1:p.Trp193LeufsTer27
NM_001135162.1:c.575_576insT	NP_001128634.1:p.Trp193LeufsTer27
NM_007310.2:c.425_426insT	NP_009294.1:p.Trp143LeufsTer27
XM_011529885.1:c.689_690insT	XP_011528187.1:p.Trp231LeufsTer24
XM_011529886.1:c.689_690insT	XP_011528188.1:p.Trp231LeufsTer27
XM_011529887.1:c.575_576insT	XP_011528189.1:p.Trp193LeufsTer24
XM_011529888.1:c.575_576insT	XP_011528190.1:p.Trp193LeufsTer24
XM_011529889.1:c.575_576insT	XP_011528191.1:p.Trp193LeufsTer24
XM_011529890.1:c.575_576insT	XP_011528192.1:p.Trp193LeufsTer24
XM_011529891.1:c.575_576insT	XP_011528193.1:p.Trp193LeufsTer24
NM_001362828.1:c.575_576insT	NP_001349757.1:p.Trp193LeufsTer27
XM_011529886.2:c.986_987insT	XP_011528188.2:p.Trp330LeufsTer27
XM_017028595.1:c.575_576insT	XP_016884084.1:p.Trp193LeufsTer27
NM_000754.4:c.575_576insT MANE Select	NP_000745.1:p.Trp193LeufsTer27
NM_001135161.2:c.575_576insT	NP_001128633.1:p.Trp193LeufsTer27
NM_001135162.2:c.575_576insT	NP_001128634.1:p.Trp193LeufsTer27
NM_001362828.2:c.575_576insT	NP_001349757.1:p.Trp193LeufsTer27
NM_007310.3:c.425_426insT	NP_009294.1:p.Trp143LeufsTer27