Canonical Allele Identifier: CA10104560

Gene: COMT

Linked Data

• dbSNP Id: rs745493295
• ExAC: 22:19951189 GTCACCAGGGGCGAGGCTCA / G
• gnomAD v2: 22-19951189-GTCACCAGGGGCGAGGCTCA-G
• gnomAD v4: 22-19963666-GTCACCAGGGGCGAGGCTCA-G
• MyVariant Identifiers: chr22:g.19951190_19951208del (hg19) ; chr22:g.19963667_19963685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19963673_19963691del , CM000684.2:g.19963673_19963691del	GRCh38
NC_000022.10:g.19951196_19951214del , CM000684.1:g.19951196_19951214del	GRCh37
NC_000022.9:g.18331196_18331214del	NCBI36
NG_011526.1:g.26934_26952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.397_415del MANE Select	ENSP00000354511.6:p.Gly133SerfsTer20
ENST00000428707.2:c.397_415del	ENSP00000387695.2:p.Gly133SerfsTer20
ENST00000676678.1:c.397_415del	ENSP00000503719.1:p.Gly133SerfsTer20
ENST00000677397.1:c.247_265del	ENSP00000503422.1:p.Gly83SerfsTer20
ENST00000677564.1:n.180_198del
ENST00000677675.1:n.197_215del
ENST00000678240.1:n.245_263del
ENST00000678255.1:c.397_415del	ENSP00000504402.1:p.Gly133SerfsTer20
ENST00000678769.1:c.397_415del	ENSP00000503289.1:p.Gly133SerfsTer20
ENST00000678868.1:c.397_415del	ENSP00000503583.1:p.Gly133SerfsTer20
ENST00000678945.1:n.207_225del
ENST00000207636.9:c.397_415del	ENSP00000207636.5:p.Gly133SerfsTer20
ENST00000361682.10:c.397_415del	ENSP00000354511.6:p.Gly133SerfsTer20
ENST00000403184.5:c.397_415del	ENSP00000383966.1:p.Gly133SerfsTer20
ENST00000403710.5:c.397_415del	ENSP00000385917.1:p.Gly133SerfsTer20
ENST00000406520.7:c.397_415del	ENSP00000385150.3:p.Gly133SerfsTer20
ENST00000407537.5:c.397_415del	ENSP00000384654.2:p.Gly133SerfsTer20
ENST00000412786.5:c.397_415del	ENSP00000403958.1:p.Gly133SerfsTer20
ENST00000449653.5:c.247_265del	ENSP00000416778.1:p.Gly83SerfsTer20
ENST00000493893.1:n.135_153del
NM_000754.3:c.397_415del	NP_000745.1:p.Gly133SerfsTer20
NM_001135161.1:c.397_415del	NP_001128633.1:p.Gly133SerfsTer20
NM_001135162.1:c.397_415del	NP_001128634.1:p.Gly133SerfsTer20
NM_007310.2:c.247_265del	NP_009294.1:p.Gly83SerfsTer20
XM_011529885.1:c.511_529del	XP_011528187.1:p.Gly171SerfsTer20
XM_011529886.1:c.511_529del	XP_011528188.1:p.Gly171SerfsTer20
XM_011529887.1:c.397_415del	XP_011528189.1:p.Gly133SerfsTer20
XM_011529888.1:c.397_415del	XP_011528190.1:p.Gly133SerfsTer20
XM_011529889.1:c.397_415del	XP_011528191.1:p.Gly133SerfsTer20
XM_011529890.1:c.397_415del	XP_011528192.1:p.Gly133SerfsTer20
XM_011529891.1:c.397_415del	XP_011528193.1:p.Gly133SerfsTer20
NM_001362828.1:c.397_415del	NP_001349757.1:p.Gly133SerfsTer20
XM_011529886.2:c.808_826del	XP_011528188.2:p.Gly270SerfsTer20
XM_017028595.1:c.397_415del	XP_016884084.1:p.Gly133SerfsTer20
NM_000754.4:c.397_415del MANE Select	NP_000745.1:p.Gly133SerfsTer20
NM_001135161.2:c.397_415del	NP_001128633.1:p.Gly133SerfsTer20
NM_001135162.2:c.397_415del	NP_001128634.1:p.Gly133SerfsTer20
NM_001362828.2:c.397_415del	NP_001349757.1:p.Gly133SerfsTer20
NM_007310.3:c.247_265del	NP_009294.1:p.Gly83SerfsTer20