Canonical Allele Identifier: CA2396115651

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19942574_19942575delinsCT , CM000684.2:g.19942574_19942575delinsCT	GRCh38
NC_000022.10:g.19930097_19930098delinsCT , CM000684.1:g.19930097_19930098delinsCT	GRCh37
NC_000022.9:g.18310097_18310098delinsCT	NCBI36
NG_011526.1:g.5835_5836delinsCT
NG_011835.1:g.4262_4263delinsAG , LRG_417:g.4262_4263delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+677_-92+678delinsCT MANE Select	ENSP00000354511.6:n.-92+677_-92+678delinsCT
ENST00000428707.2:c.-92+677_-92+678delinsCT	ENSP00000387695.2:n.-92+677_-92+678delinsCT
ENST00000676678.1:c.-92+999_-92+1000delinsCT	ENSP00000503719.1:n.-92+999_-92+1000delinsCT
ENST00000678769.1:c.-92+677_-92+678delinsCT	ENSP00000503289.1:n.-92+677_-92+678delinsCT
ENST00000678868.1:c.-276+677_-276+678delinsCT	ENSP00000503583.1:n.-276+677_-276+678delinsCT
ENST00000361682.10:c.-92+677_-92+678delinsCT	ENSP00000354511.6:n.-92+677_-92+678delinsCT
ENST00000403184.5:c.-92+677_-92+678delinsCT	ENSP00000383966.1:n.-92+677_-92+678delinsCT
ENST00000403710.5:c.-386+677_-386+678delinsCT	ENSP00000385917.1:n.-386+677_-386+678delinsCT
ENST00000407537.5:c.-270+677_-270+678delinsCT	ENSP00000384654.2:n.-270+677_-270+678delinsCT
ENST00000467943.5:n.105+677_105+678delinsCT
NM_000754.3:c.-92+677_-92+678delinsCT	NP_000745.1:n.-92+677_-92+678delinsCT
XM_011529887.1:c.-92+677_-92+678delinsCT	XP_011528189.1:n.-92+677_-92+678delinsCT
XM_011529890.1:c.-386+677_-386+678delinsCT	XP_011528192.1:n.-386+677_-386+678delinsCT
XM_011529891.1:c.-386+399_-386+400delinsCT	XP_011528193.1:n.-386+399_-386+400delinsCT
NM_001362828.1:c.-386+677_-386+678delinsCT	NP_001349757.1:n.-386+677_-386+678delinsCT
XM_017028595.1:c.-386+399_-386+400delinsCT	XP_016884084.1:n.-386+399_-386+400delinsCT
NM_000754.4:c.-92+677_-92+678delinsCT MANE Select	NP_000745.1:n.-92+677_-92+678delinsCT
NM_001362828.2:c.-386+677_-386+678delinsCT	NP_001349757.1:n.-386+677_-386+678delinsCT