Canonical Allele Identifier: CA2655334396

Gene: COMT

Linked Data

• gnomAD v4: 22-19964585-C-CAAAGTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964585_19964586insAAAGTGCG , CM000684.2:g.19964585_19964586insAAAGTGCG	GRCh38
NC_000022.10:g.19952108_19952109insAAAGTGCG , CM000684.1:g.19952108_19952109insAAAGTGCG	GRCh37
NC_000022.9:g.18332108_18332109insAAAGTGCG	NCBI36
NG_011526.1:g.27846_27847insAAAGTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.615+286_615+287insAAAGTGCG MANE Select	ENSP00000354511.6:n.615+286_615+287insAAAGTGCG
ENST00000428707.2:c.615+286_615+287insAAAGTGCG	ENSP00000387695.2:n.615+286_615+287insAAAGTGCG
ENST00000676678.1:c.615+286_615+287insAAAGTGCG	ENSP00000503719.1:n.615+286_615+287insAAAGTGCG
ENST00000677397.1:c.465+286_465+287insAAAGTGCG	ENSP00000503422.1:n.465+286_465+287insAAAGTGCG
ENST00000677470.1:n.465+286_465+287insAAAGTGCG
ENST00000677564.1:n.398+286_398+287insAAAGTGCG
ENST00000677675.1:n.415+286_415+287insAAAGTGCG
ENST00000678255.1:c.615+286_615+287insAAAGTGCG	ENSP00000504402.1:n.615+286_615+287insAAAGTGCG
ENST00000678769.1:c.615+286_615+287insAAAGTGCG	ENSP00000503289.1:n.615+286_615+287insAAAGTGCG
ENST00000678868.1:c.615+286_615+287insAAAGTGCG	ENSP00000503583.1:n.615+286_615+287insAAAGTGCG
ENST00000678945.1:n.483+286_483+287insAAAGTGCG
ENST00000207636.9:c.*73+286_*73+287insAAAGTGCG	ENSP00000207636.5:n.*73+286_*73+287insAAAGTGCG
ENST00000361682.10:c.615+286_615+287insAAAGTGCG	ENSP00000354511.6:n.615+286_615+287insAAAGTGCG
ENST00000403184.5:c.*193_*194insAAAGTGCG	ENSP00000383966.1:n.*193_*194insAAAGTGCG
ENST00000403710.5:c.615+286_615+287insAAAGTGCG	ENSP00000385917.1:n.615+286_615+287insAAAGTGCG
ENST00000406520.7:c.615+286_615+287insAAAGTGCG	ENSP00000385150.3:n.615+286_615+287insAAAGTGCG
ENST00000407537.5:c.615+286_615+287insAAAGTGCG	ENSP00000384654.2:n.615+286_615+287insAAAGTGCG
ENST00000412786.5:c.615+286_615+287insAAAGTGCG	ENSP00000403958.1:n.615+286_615+287insAAAGTGCG
ENST00000428707.1:c.193+286_193+287insAAAGTGCG
ENST00000449653.5:c.465+286_465+287insAAAGTGCG	ENSP00000416778.1:n.465+286_465+287insAAAGTGCG
NM_000754.3:c.615+286_615+287insAAAGTGCG	NP_000745.1:n.615+286_615+287insAAAGTGCG
NM_001135161.1:c.615+286_615+287insAAAGTGCG	NP_001128633.1:n.615+286_615+287insAAAGTGCG
NM_001135162.1:c.615+286_615+287insAAAGTGCG	NP_001128634.1:n.615+286_615+287insAAAGTGCG
NM_007310.2:c.465+286_465+287insAAAGTGCG	NP_009294.1:n.465+286_465+287insAAAGTGCG
XM_011529885.1:c.729+286_729+287insAAAGTGCG	XP_011528187.1:n.729+286_729+287insAAAGTGCG
XM_011529886.1:c.729+286_729+287insAAAGTGCG	XP_011528188.1:n.729+286_729+287insAAAGTGCG
XM_011529887.1:c.615+286_615+287insAAAGTGCG	XP_011528189.1:n.615+286_615+287insAAAGTGCG
XM_011529888.1:c.615+286_615+287insAAAGTGCG	XP_011528190.1:n.615+286_615+287insAAAGTGCG
XM_011529889.1:c.615+286_615+287insAAAGTGCG	XP_011528191.1:n.615+286_615+287insAAAGTGCG
XM_011529890.1:c.615+286_615+287insAAAGTGCG	XP_011528192.1:n.615+286_615+287insAAAGTGCG
XM_011529891.1:c.615+286_615+287insAAAGTGCG	XP_011528193.1:n.615+286_615+287insAAAGTGCG
NM_001362828.1:c.615+286_615+287insAAAGTGCG	NP_001349757.1:n.615+286_615+287insAAAGTGCG
XM_011529886.2:c.1026+286_1026+287insAAAGTGCG	XP_011528188.2:n.1026+286_1026+287insAAAGTGCG
XM_017028595.1:c.615+286_615+287insAAAGTGCG	XP_016884084.1:n.615+286_615+287insAAAGTGCG
NM_000754.4:c.615+286_615+287insAAAGTGCG MANE Select	NP_000745.1:n.615+286_615+287insAAAGTGCG
NM_001135161.2:c.615+286_615+287insAAAGTGCG	NP_001128633.1:n.615+286_615+287insAAAGTGCG
NM_001135162.2:c.615+286_615+287insAAAGTGCG	NP_001128634.1:n.615+286_615+287insAAAGTGCG
NM_001362828.2:c.615+286_615+287insAAAGTGCG	NP_001349757.1:n.615+286_615+287insAAAGTGCG
NM_007310.3:c.465+286_465+287insAAAGTGCG	NP_009294.1:n.465+286_465+287insAAAGTGCG