Canonical Allele Identifier: CA2655332934

Gene: COMT

Linked Data

• gnomAD v4: 22-19962733-CGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19962734_19962737del , CM000684.2:g.19962734_19962737del	GRCh38
NC_000022.10:g.19950257_19950260del , CM000684.1:g.19950257_19950260del	GRCh37
NC_000022.9:g.18330257_18330260del	NCBI36
NG_011526.1:g.25995_25998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.208_211del MANE Select	ENSP00000354511.6:p.Gly70ThrfsTer20
ENST00000428707.2:c.208_211del	ENSP00000387695.2:p.Gly70ThrfsTer20
ENST00000676678.1:c.208_211del	ENSP00000503719.1:p.Gly70ThrfsTer20
ENST00000677397.1:c.58_61del	ENSP00000503422.1:p.Gly20ThrfsTer20
ENST00000678240.1:n.56_59del
ENST00000678255.1:c.208_211del	ENSP00000504402.1:p.Gly70ThrfsTer20
ENST00000678769.1:c.208_211del	ENSP00000503289.1:p.Gly70ThrfsTer20
ENST00000678868.1:c.208_211del	ENSP00000503583.1:p.Gly70ThrfsTer20
ENST00000207636.9:c.208_211del	ENSP00000207636.5:p.Gly70ThrfsTer20
ENST00000361682.10:c.208_211del	ENSP00000354511.6:p.Gly70ThrfsTer20
ENST00000403184.5:c.208_211del	ENSP00000383966.1:p.Gly70ThrfsTer20
ENST00000403710.5:c.208_211del	ENSP00000385917.1:p.Gly70ThrfsTer20
ENST00000406520.7:c.208_211del	ENSP00000385150.3:p.Gly70ThrfsTer20
ENST00000407537.5:c.208_211del	ENSP00000384654.2:p.Gly70ThrfsTer20
ENST00000412786.5:c.208_211del	ENSP00000403958.1:p.Gly70ThrfsTer20
ENST00000449653.5:c.58_61del	ENSP00000416778.1:p.Gly20ThrfsTer20
ENST00000467943.5:n.404_407del
NM_000754.3:c.208_211del	NP_000745.1:p.Gly70ThrfsTer20
NM_001135161.1:c.208_211del	NP_001128633.1:p.Gly70ThrfsTer20
NM_001135162.1:c.208_211del	NP_001128634.1:p.Gly70ThrfsTer20
NM_007310.2:c.58_61del	NP_009294.1:p.Gly20ThrfsTer20
XM_011529885.1:c.322_325del	XP_011528187.1:p.Gly108ThrfsTer20
XM_011529886.1:c.322_325del	XP_011528188.1:p.Gly108ThrfsTer20
XM_011529887.1:c.208_211del	XP_011528189.1:p.Gly70ThrfsTer20
XM_011529888.1:c.208_211del	XP_011528190.1:p.Gly70ThrfsTer20
XM_011529889.1:c.208_211del	XP_011528191.1:p.Gly70ThrfsTer20
XM_011529890.1:c.208_211del	XP_011528192.1:p.Gly70ThrfsTer20
XM_011529891.1:c.208_211del	XP_011528193.1:p.Gly70ThrfsTer20
NM_001362828.1:c.208_211del	NP_001349757.1:p.Gly70ThrfsTer20
XM_011529886.2:c.619_622del	XP_011528188.2:p.Gly207ThrfsTer20
XM_017028595.1:c.208_211del	XP_016884084.1:p.Gly70ThrfsTer20
NM_000754.4:c.208_211del MANE Select	NP_000745.1:p.Gly70ThrfsTer20
NM_001135161.2:c.208_211del	NP_001128633.1:p.Gly70ThrfsTer20
NM_001135162.2:c.208_211del	NP_001128634.1:p.Gly70ThrfsTer20
NM_001362828.2:c.208_211del	NP_001349757.1:p.Gly70ThrfsTer20
NM_007310.3:c.58_61del	NP_009294.1:p.Gly20ThrfsTer20