Canonical Allele Identifier: CA322121254

Gene: COMT

Linked Data

• dbSNP Id: rs879337262

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964280_19964281delinsA , CM000684.2:g.19964280_19964281delinsA	GRCh38
NC_000022.10:g.19951803_19951804delinsA , CM000684.1:g.19951803_19951804delinsA	GRCh37
NC_000022.9:g.18331803_18331804delinsA	NCBI36
NG_011526.1:g.27541_27542delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.596_597delinsA MANE Select	ENSP00000354511.6:p.Pro199GlnfsTer23
ENST00000428707.2:c.596_597delinsA	ENSP00000387695.2:p.Pro199GlnfsTer30
ENST00000676678.1:c.596_597delinsA	ENSP00000503719.1:p.Pro199GlnfsTer23
ENST00000677397.1:c.446_447delinsA	ENSP00000503422.1:p.Pro149GlnfsTer30
ENST00000677470.1:n.446_447delinsA
ENST00000677564.1:n.379_380delinsA
ENST00000677675.1:n.396_397delinsA
ENST00000678240.1:n.444_445delinsA
ENST00000678255.1:c.596_597delinsA	ENSP00000504402.1:p.Pro199GlnfsTer23
ENST00000678769.1:c.596_597delinsA	ENSP00000503289.1:p.Pro199GlnfsTer?
ENST00000678868.1:c.596_597delinsA	ENSP00000503583.1:p.Pro199GlnfsTer23
ENST00000678945.1:n.464_465delinsA
ENST00000207636.9:c.*54_*55delinsA	ENSP00000207636.5:n.*54_*55delinsA
ENST00000361682.10:c.596_597delinsA	ENSP00000354511.6:p.Pro199GlnfsTer23
ENST00000403184.5:c.596_597delinsA	ENSP00000383966.1:p.Pro199GlnfsTer8
ENST00000403710.5:c.596_597delinsA	ENSP00000385917.1:p.Pro199GlnfsTer23
ENST00000406520.7:c.596_597delinsA	ENSP00000385150.3:p.Pro199GlnfsTer23
ENST00000407537.5:c.596_597delinsA	ENSP00000384654.2:p.Pro199GlnfsTer23
ENST00000412786.5:c.596_597delinsA	ENSP00000403958.1:p.Pro199GlnfsTer23
ENST00000428707.1:c.174_175delinsA
ENST00000449653.5:c.446_447delinsA	ENSP00000416778.1:p.Pro149GlnfsTer23
ENST00000493893.1:n.334_335delinsA
NM_000754.3:c.596_597delinsA	NP_000745.1:p.Pro199GlnfsTer23
NM_001135161.1:c.596_597delinsA	NP_001128633.1:p.Pro199GlnfsTer23
NM_001135162.1:c.596_597delinsA	NP_001128634.1:p.Pro199GlnfsTer23
NM_007310.2:c.446_447delinsA	NP_009294.1:p.Pro149GlnfsTer23
XM_011529885.1:c.710_711delinsA	XP_011528187.1:p.Pro237GlnfsTer30
XM_011529886.1:c.710_711delinsA	XP_011528188.1:p.Pro237GlnfsTer23
XM_011529887.1:c.596_597delinsA	XP_011528189.1:p.Pro199GlnfsTer30
XM_011529888.1:c.596_597delinsA	XP_011528190.1:p.Pro199GlnfsTer30
XM_011529889.1:c.596_597delinsA	XP_011528191.1:p.Pro199GlnfsTer30
XM_011529890.1:c.596_597delinsA	XP_011528192.1:p.Pro199GlnfsTer30
XM_011529891.1:c.596_597delinsA	XP_011528193.1:p.Pro199GlnfsTer30
NM_001362828.1:c.596_597delinsA	NP_001349757.1:p.Pro199GlnfsTer23
XM_011529886.2:c.1007_1008delinsA	XP_011528188.2:p.Pro336GlnfsTer23
XM_017028595.1:c.596_597delinsA	XP_016884084.1:p.Pro199GlnfsTer23
NM_000754.4:c.596_597delinsA MANE Select	NP_000745.1:p.Pro199GlnfsTer23
NM_001135161.2:c.596_597delinsA	NP_001128633.1:p.Pro199GlnfsTer23
NM_001135162.2:c.596_597delinsA	NP_001128634.1:p.Pro199GlnfsTer23
NM_001362828.2:c.596_597delinsA	NP_001349757.1:p.Pro199GlnfsTer23
NM_007310.3:c.446_447delinsA	NP_009294.1:p.Pro149GlnfsTer23