Canonical Allele Identifier: CA2396126067

Gene: COMT

Linked Data

• dbSNP Id: rs1942278343

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964178_19964179insAACCACAAG , CM000684.2:g.19964178_19964179insAACCACAAG	GRCh38
NC_000022.10:g.19951701_19951702insAACCACAAG , CM000684.1:g.19951701_19951702insAACCACAAG	GRCh37
NC_000022.9:g.18331701_18331702insAACCACAAG	NCBI36
NG_011526.1:g.27439_27440insAACCACAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.494_495insAACCACAAG MANE Select	ENSP00000354511.6:p.Val165_Val166insThrThrArg
ENST00000428707.2:c.494_495insAACCACAAG	ENSP00000387695.2:p.Val165_Val166insThrThrArg
ENST00000676678.1:c.494_495insAACCACAAG	ENSP00000503719.1:p.Val165_Val166insThrThrArg
ENST00000677397.1:c.344_345insAACCACAAG	ENSP00000503422.1:p.Val115_Val116insThrThrArg
ENST00000677470.1:n.344_345insAACCACAAG
ENST00000677564.1:n.277_278insAACCACAAG
ENST00000677675.1:n.294_295insAACCACAAG
ENST00000678240.1:n.342_343insAACCACAAG
ENST00000678255.1:c.494_495insAACCACAAG	ENSP00000504402.1:p.Val165_Val166insThrThrArg
ENST00000678769.1:c.494_495insAACCACAAG	ENSP00000503289.1:p.Val165_Val166insThrThrArg
ENST00000678868.1:c.494_495insAACCACAAG	ENSP00000503583.1:p.Val165_Val166insThrThrArg
ENST00000678945.1:n.362_363insAACCACAAG
ENST00000207636.9:c.552_553insAACCACAAG	ENSP00000207636.5:p.Cys184_Gly185insAsnHisLys
ENST00000361682.10:c.494_495insAACCACAAG	ENSP00000354511.6:p.Val165_Val166insThrThrArg
ENST00000403184.5:c.494_495insAACCACAAG	ENSP00000383966.1:p.Val165_Val166insThrThrArg
ENST00000403710.5:c.494_495insAACCACAAG	ENSP00000385917.1:p.Val165_Val166insThrThrArg
ENST00000406520.7:c.494_495insAACCACAAG	ENSP00000385150.3:p.Val165_Val166insThrThrArg
ENST00000407537.5:c.494_495insAACCACAAG	ENSP00000384654.2:p.Val165_Val166insThrThrArg
ENST00000412786.5:c.494_495insAACCACAAG	ENSP00000403958.1:p.Val165_Val166insThrThrArg
ENST00000428707.1:c.72_73insAACCACAAG
ENST00000449653.5:c.344_345insAACCACAAG	ENSP00000416778.1:p.Val115_Val116insThrThrArg
ENST00000493893.1:n.232_233insAACCACAAG
NM_000754.3:c.494_495insAACCACAAG	NP_000745.1:p.Val165_Val166insThrThrArg
NM_001135161.1:c.494_495insAACCACAAG	NP_001128633.1:p.Val165_Val166insThrThrArg
NM_001135162.1:c.494_495insAACCACAAG	NP_001128634.1:p.Val165_Val166insThrThrArg
NM_007310.2:c.344_345insAACCACAAG	NP_009294.1:p.Val115_Val116insThrThrArg
XM_011529885.1:c.608_609insAACCACAAG	XP_011528187.1:p.Val203_Val204insThrThrArg
XM_011529886.1:c.608_609insAACCACAAG	XP_011528188.1:p.Val203_Val204insThrThrArg
XM_011529887.1:c.494_495insAACCACAAG	XP_011528189.1:p.Val165_Val166insThrThrArg
XM_011529888.1:c.494_495insAACCACAAG	XP_011528190.1:p.Val165_Val166insThrThrArg
XM_011529889.1:c.494_495insAACCACAAG	XP_011528191.1:p.Val165_Val166insThrThrArg
XM_011529890.1:c.494_495insAACCACAAG	XP_011528192.1:p.Val165_Val166insThrThrArg
XM_011529891.1:c.494_495insAACCACAAG	XP_011528193.1:p.Val165_Val166insThrThrArg
NM_001362828.1:c.494_495insAACCACAAG	NP_001349757.1:p.Val165_Val166insThrThrArg
XM_011529886.2:c.905_906insAACCACAAG	XP_011528188.2:p.Val302_Val303insThrThrArg
XM_017028595.1:c.494_495insAACCACAAG	XP_016884084.1:p.Val165_Val166insThrThrArg
NM_000754.4:c.494_495insAACCACAAG MANE Select	NP_000745.1:p.Val165_Val166insThrThrArg
NM_001135161.2:c.494_495insAACCACAAG	NP_001128633.1:p.Val165_Val166insThrThrArg
NM_001135162.2:c.494_495insAACCACAAG	NP_001128634.1:p.Val165_Val166insThrThrArg
NM_001362828.2:c.494_495insAACCACAAG	NP_001349757.1:p.Val165_Val166insThrThrArg
NM_007310.3:c.344_345insAACCACAAG	NP_009294.1:p.Val115_Val116insThrThrArg