Canonical Allele Identifier: CA2396126718

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19965429_19965431delinsCCT , CM000684.2:g.19965429_19965431delinsCCT	GRCh38
NC_000022.10:g.19952952_19952954delinsCCT , CM000684.1:g.19952952_19952954delinsCCT	GRCh37
NC_000022.9:g.18332952_18332954delinsCCT	NCBI36
NG_011526.1:g.28690_28692delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.615+1130_615+1132delinsCCT MANE Select	ENSP00000354511.6:n.615+1130_615+1132delinsCCT
ENST00000428707.2:c.615+1130_615+1132delinsCCT	ENSP00000387695.2:n.615+1130_615+1132delinsCCT
ENST00000676678.1:c.615+1130_615+1132delinsCCT	ENSP00000503719.1:n.615+1130_615+1132delinsCCT
ENST00000677397.1:c.465+1130_465+1132delinsCCT	ENSP00000503422.1:n.465+1130_465+1132delinsCCT
ENST00000677470.1:n.465+1130_465+1132delinsCCT
ENST00000677564.1:n.398+1130_398+1132delinsCCT
ENST00000677675.1:n.415+1130_415+1132delinsCCT
ENST00000678255.1:c.615+1130_615+1132delinsCCT	ENSP00000504402.1:n.615+1130_615+1132delinsCCT
ENST00000678769.1:c.615+1130_615+1132delinsCCT	ENSP00000503289.1:n.615+1130_615+1132delinsCCT
ENST00000678868.1:c.615+1130_615+1132delinsCCT	ENSP00000503583.1:n.615+1130_615+1132delinsCCT
ENST00000678945.1:n.483+1130_483+1132delinsCCT
ENST00000207636.9:c.*73+1130_*73+1132delinsCCT	ENSP00000207636.5:n.*73+1130_*73+1132delinsCCT
ENST00000361682.10:c.615+1130_615+1132delinsCCT	ENSP00000354511.6:n.615+1130_615+1132delinsCCT
ENST00000403184.5:c.*1037_*1039delinsCCT	ENSP00000383966.1:n.*1037_*1039delinsCCT
ENST00000403710.5:c.615+1130_615+1132delinsCCT	ENSP00000385917.1:n.615+1130_615+1132delinsCCT
ENST00000406520.7:c.615+1130_615+1132delinsCCT	ENSP00000385150.3:n.615+1130_615+1132delinsCCT
ENST00000407537.5:c.615+1130_615+1132delinsCCT	ENSP00000384654.2:n.615+1130_615+1132delinsCCT
ENST00000412786.5:c.615+1130_615+1132delinsCCT	ENSP00000403958.1:n.615+1130_615+1132delinsCCT
ENST00000428707.1:c.193+1130_193+1132delinsCCT
ENST00000449653.5:c.465+1130_465+1132delinsCCT	ENSP00000416778.1:n.465+1130_465+1132delinsCCT
NM_000754.3:c.615+1130_615+1132delinsCCT	NP_000745.1:n.615+1130_615+1132delinsCCT
NM_001135161.1:c.615+1130_615+1132delinsCCT	NP_001128633.1:n.615+1130_615+1132delinsCCT
NM_001135162.1:c.615+1130_615+1132delinsCCT	NP_001128634.1:n.615+1130_615+1132delinsCCT
NM_007310.2:c.465+1130_465+1132delinsCCT	NP_009294.1:n.465+1130_465+1132delinsCCT
XM_011529885.1:c.729+1130_729+1132delinsCCT	XP_011528187.1:n.729+1130_729+1132delinsCCT
XM_011529886.1:c.729+1130_729+1132delinsCCT	XP_011528188.1:n.729+1130_729+1132delinsCCT
XM_011529887.1:c.615+1130_615+1132delinsCCT	XP_011528189.1:n.615+1130_615+1132delinsCCT
XM_011529888.1:c.615+1130_615+1132delinsCCT	XP_011528190.1:n.615+1130_615+1132delinsCCT
XM_011529889.1:c.615+1130_615+1132delinsCCT	XP_011528191.1:n.615+1130_615+1132delinsCCT
XM_011529890.1:c.615+1130_615+1132delinsCCT	XP_011528192.1:n.615+1130_615+1132delinsCCT
XM_011529891.1:c.615+1130_615+1132delinsCCT	XP_011528193.1:n.615+1130_615+1132delinsCCT
NM_001362828.1:c.615+1130_615+1132delinsCCT	NP_001349757.1:n.615+1130_615+1132delinsCCT
XM_011529886.2:c.1026+1130_1026+1132delinsCCT	XP_011528188.2:n.1026+1130_1026+1132delinsCCT
XM_017028595.1:c.615+1130_615+1132delinsCCT	XP_016884084.1:n.615+1130_615+1132delinsCCT
NM_000754.4:c.615+1130_615+1132delinsCCT MANE Select	NP_000745.1:n.615+1130_615+1132delinsCCT
NM_001135161.2:c.615+1130_615+1132delinsCCT	NP_001128633.1:n.615+1130_615+1132delinsCCT
NM_001135162.2:c.615+1130_615+1132delinsCCT	NP_001128634.1:n.615+1130_615+1132delinsCCT
NM_001362828.2:c.615+1130_615+1132delinsCCT	NP_001349757.1:n.615+1130_615+1132delinsCCT
NM_007310.3:c.465+1130_465+1132delinsCCT	NP_009294.1:n.465+1130_465+1132delinsCCT