Canonical Allele Identifier: CA322120540

Gene: COMT

Linked Data

• dbSNP Id: rs956325521
• gnomAD v2: 22-19949078-T-TTTCTAAA
• gnomAD v3: 22-19961555-T-TTTCTAAA
• gnomAD v4: 22-19961555-T-TTTCTAAA
• MyVariant Identifiers: chr22:g.19949078_19949079insTTCTAAA (hg19) ; chr22:g.19949079delinsTTCTAAAG (hg19) ; chr22:g.19961555_19961556insTTCTAAA (hg38) ; chr22:g.19961556delinsTTCTAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19961555_19961556insTTCTAAA , CM000684.2:g.19961555_19961556insTTCTAAA	GRCh38
NC_000022.10:g.19949078_19949079insTTCTAAA , CM000684.1:g.19949078_19949079insTTCTAAA	GRCh37
NC_000022.9:g.18329078_18329079insTTCTAAA	NCBI36
NG_011526.1:g.24816_24817insTTCTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.-1+266_-1+267insTTCTAAA MANE Select	ENSP00000354511.6:n.-1+266_-1+267insTTCTAAA
ENST00000428707.2:c.-1+266_-1+267insTTCTAAA	ENSP00000387695.2:n.-1+266_-1+267insTTCTAAA
ENST00000676678.1:c.-1+266_-1+267insTTCTAAA	ENSP00000503719.1:n.-1+266_-1+267insTTCTAAA
ENST00000678255.1:c.-830-142_-830-141insTTCTAAA	ENSP00000504402.1:n.-830-142_-830-141insTTCTAAA
ENST00000678769.1:c.-1+266_-1+267insTTCTAAA	ENSP00000503289.1:n.-1+266_-1+267insTTCTAAA
ENST00000678868.1:c.-1+266_-1+267insTTCTAAA	ENSP00000503583.1:n.-1+266_-1+267insTTCTAAA
ENST00000207636.9:c.-1+266_-1+267insTTCTAAA	ENSP00000207636.5:n.-1+266_-1+267insTTCTAAA
ENST00000361682.10:c.-1+266_-1+267insTTCTAAA	ENSP00000354511.6:n.-1+266_-1+267insTTCTAAA
ENST00000403184.5:c.-1+266_-1+267insTTCTAAA	ENSP00000383966.1:n.-1+266_-1+267insTTCTAAA
ENST00000403710.5:c.-295+266_-295+267insTTCTAAA	ENSP00000385917.1:n.-295+266_-295+267insTTCTAAA
ENST00000406520.7:c.-1+266_-1+267insTTCTAAA	ENSP00000385150.3:n.-1+266_-1+267insTTCTAAA
ENST00000407537.5:c.-178-142_-178-141insTTCTAAA	ENSP00000384654.2:n.-178-142_-178-141insTTCTAAA
ENST00000412786.5:c.-1+266_-1+267insTTCTAAA	ENSP00000403958.1:n.-1+266_-1+267insTTCTAAA
ENST00000467943.5:n.196+266_196+267insTTCTAAA
NM_000754.3:c.-1+266_-1+267insTTCTAAA	NP_000745.1:n.-1+266_-1+267insTTCTAAA
NM_001135161.1:c.-1+266_-1+267insTTCTAAA	NP_001128633.1:n.-1+266_-1+267insTTCTAAA
NM_001135162.1:c.-1+266_-1+267insTTCTAAA	NP_001128634.1:n.-1+266_-1+267insTTCTAAA
XM_011529885.1:c.114+266_114+267insTTCTAAA	XP_011528187.1:n.114+266_114+267insTTCTAAA
XM_011529886.1:c.114+266_114+267insTTCTAAA	XP_011528188.1:n.114+266_114+267insTTCTAAA
XM_011529887.1:c.-1+266_-1+267insTTCTAAA	XP_011528189.1:n.-1+266_-1+267insTTCTAAA
XM_011529888.1:c.-1+266_-1+267insTTCTAAA	XP_011528190.1:n.-1+266_-1+267insTTCTAAA
XM_011529889.1:c.-1+266_-1+267insTTCTAAA	XP_011528191.1:n.-1+266_-1+267insTTCTAAA
XM_011529890.1:c.-295+266_-295+267insTTCTAAA	XP_011528192.1:n.-295+266_-295+267insTTCTAAA
XM_011529891.1:c.-295+266_-295+267insTTCTAAA	XP_011528193.1:n.-295+266_-295+267insTTCTAAA
NM_001362828.1:c.-295+266_-295+267insTTCTAAA	NP_001349757.1:n.-295+266_-295+267insTTCTAAA
XM_011529886.2:c.411+266_411+267insTTCTAAA	XP_011528188.2:n.411+266_411+267insTTCTAAA
XM_017028595.1:c.-295+266_-295+267insTTCTAAA	XP_016884084.1:n.-295+266_-295+267insTTCTAAA
NM_000754.4:c.-1+266_-1+267insTTCTAAA MANE Select	NP_000745.1:n.-1+266_-1+267insTTCTAAA
NM_001135161.2:c.-1+266_-1+267insTTCTAAA	NP_001128633.1:n.-1+266_-1+267insTTCTAAA
NM_001135162.2:c.-1+266_-1+267insTTCTAAA	NP_001128634.1:n.-1+266_-1+267insTTCTAAA
NM_001362828.2:c.-295+266_-295+267insTTCTAAA	NP_001349757.1:n.-295+266_-295+267insTTCTAAA