Canonical Allele Identifier: CA2655334393

Gene: COMT

Linked Data

• gnomAD v4: 22-19964584-C-CTGGTGGGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964584_19964585insTGGTGGGGAGGA , CM000684.2:g.19964584_19964585insTGGTGGGGAGGA	GRCh38
NC_000022.10:g.19952107_19952108insTGGTGGGGAGGA , CM000684.1:g.19952107_19952108insTGGTGGGGAGGA	GRCh37
NC_000022.9:g.18332107_18332108insTGGTGGGGAGGA	NCBI36
NG_011526.1:g.27845_27846insTGGTGGGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.615+285_615+286insTGGTGGGGAGGA MANE Select	ENSP00000354511.6:n.615+285_615+286insTGGTGGGGAGGA
ENST00000428707.2:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000387695.2:n.615+285_615+286insTGGTGGGGAGGA
ENST00000676678.1:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000503719.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000677397.1:c.465+285_465+286insTGGTGGGGAGGA	ENSP00000503422.1:n.465+285_465+286insTGGTGGGGAGGA
ENST00000677470.1:n.465+285_465+286insTGGTGGGGAGGA
ENST00000677564.1:n.398+285_398+286insTGGTGGGGAGGA
ENST00000677675.1:n.415+285_415+286insTGGTGGGGAGGA
ENST00000678255.1:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000504402.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000678769.1:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000503289.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000678868.1:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000503583.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000678945.1:n.483+285_483+286insTGGTGGGGAGGA
ENST00000207636.9:c.*73+285_*73+286insTGGTGGGGAGGA	ENSP00000207636.5:n.*73+285_*73+286insTGGTGGGGAGGA
ENST00000361682.10:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000354511.6:n.615+285_615+286insTGGTGGGGAGGA
ENST00000403184.5:c.*192_*193insTGGTGGGGAGGA	ENSP00000383966.1:n.*192_*193insTGGTGGGGAGGA
ENST00000403710.5:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000385917.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000406520.7:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000385150.3:n.615+285_615+286insTGGTGGGGAGGA
ENST00000407537.5:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000384654.2:n.615+285_615+286insTGGTGGGGAGGA
ENST00000412786.5:c.615+285_615+286insTGGTGGGGAGGA	ENSP00000403958.1:n.615+285_615+286insTGGTGGGGAGGA
ENST00000428707.1:c.193+285_193+286insTGGTGGGGAGGA
ENST00000449653.5:c.465+285_465+286insTGGTGGGGAGGA	ENSP00000416778.1:n.465+285_465+286insTGGTGGGGAGGA
NM_000754.3:c.615+285_615+286insTGGTGGGGAGGA	NP_000745.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001135161.1:c.615+285_615+286insTGGTGGGGAGGA	NP_001128633.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001135162.1:c.615+285_615+286insTGGTGGGGAGGA	NP_001128634.1:n.615+285_615+286insTGGTGGGGAGGA
NM_007310.2:c.465+285_465+286insTGGTGGGGAGGA	NP_009294.1:n.465+285_465+286insTGGTGGGGAGGA
XM_011529885.1:c.729+285_729+286insTGGTGGGGAGGA	XP_011528187.1:n.729+285_729+286insTGGTGGGGAGGA
XM_011529886.1:c.729+285_729+286insTGGTGGGGAGGA	XP_011528188.1:n.729+285_729+286insTGGTGGGGAGGA
XM_011529887.1:c.615+285_615+286insTGGTGGGGAGGA	XP_011528189.1:n.615+285_615+286insTGGTGGGGAGGA
XM_011529888.1:c.615+285_615+286insTGGTGGGGAGGA	XP_011528190.1:n.615+285_615+286insTGGTGGGGAGGA
XM_011529889.1:c.615+285_615+286insTGGTGGGGAGGA	XP_011528191.1:n.615+285_615+286insTGGTGGGGAGGA
XM_011529890.1:c.615+285_615+286insTGGTGGGGAGGA	XP_011528192.1:n.615+285_615+286insTGGTGGGGAGGA
XM_011529891.1:c.615+285_615+286insTGGTGGGGAGGA	XP_011528193.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001362828.1:c.615+285_615+286insTGGTGGGGAGGA	NP_001349757.1:n.615+285_615+286insTGGTGGGGAGGA
XM_011529886.2:c.1026+285_1026+286insTGGTGGGGAGGA	XP_011528188.2:n.1026+285_1026+286insTGGTGGGGAGGA
XM_017028595.1:c.615+285_615+286insTGGTGGGGAGGA	XP_016884084.1:n.615+285_615+286insTGGTGGGGAGGA
NM_000754.4:c.615+285_615+286insTGGTGGGGAGGA MANE Select	NP_000745.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001135161.2:c.615+285_615+286insTGGTGGGGAGGA	NP_001128633.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001135162.2:c.615+285_615+286insTGGTGGGGAGGA	NP_001128634.1:n.615+285_615+286insTGGTGGGGAGGA
NM_001362828.2:c.615+285_615+286insTGGTGGGGAGGA	NP_001349757.1:n.615+285_615+286insTGGTGGGGAGGA
NM_007310.3:c.465+285_465+286insTGGTGGGGAGGA	NP_009294.1:n.465+285_465+286insTGGTGGGGAGGA