Canonical Allele Identifier: CA2396116188

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943745_19943747delinsAGC , CM000684.2:g.19943745_19943747delinsAGC	GRCh38
NC_000022.10:g.19931268_19931270delinsAGC , CM000684.1:g.19931268_19931270delinsAGC	GRCh37
NC_000022.9:g.18311268_18311270delinsAGC	NCBI36
NG_011526.1:g.7006_7008delinsAGC
NG_011835.1:g.3090_3092delinsGCT , LRG_417:g.3090_3092delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1848_-92+1850delinsAGC MANE Select	ENSP00000354511.6:n.-92+1848_-92+1850delinsAGC
ENST00000428707.2:c.-92+1848_-92+1850delinsAGC	ENSP00000387695.2:n.-92+1848_-92+1850delinsAGC
ENST00000676678.1:c.-92+2170_-92+2172delinsAGC	ENSP00000503719.1:n.-92+2170_-92+2172delinsAGC
ENST00000678769.1:c.-92+1848_-92+1850delinsAGC	ENSP00000503289.1:n.-92+1848_-92+1850delinsAGC
ENST00000678868.1:c.-276+1848_-276+1850delinsAGC	ENSP00000503583.1:n.-276+1848_-276+1850delinsAGC
ENST00000361682.10:c.-92+1848_-92+1850delinsAGC	ENSP00000354511.6:n.-92+1848_-92+1850delinsAGC
ENST00000403184.5:c.-92+1848_-92+1850delinsAGC	ENSP00000383966.1:n.-92+1848_-92+1850delinsAGC
ENST00000403710.5:c.-386+1848_-386+1850delinsAGC	ENSP00000385917.1:n.-386+1848_-386+1850delinsAGC
ENST00000407537.5:c.-270+1848_-270+1850delinsAGC	ENSP00000384654.2:n.-270+1848_-270+1850delinsAGC
ENST00000467943.5:n.105+1848_105+1850delinsAGC
NM_000754.3:c.-92+1848_-92+1850delinsAGC	NP_000745.1:n.-92+1848_-92+1850delinsAGC
XM_011529887.1:c.-92+1848_-92+1850delinsAGC	XP_011528189.1:n.-92+1848_-92+1850delinsAGC
XM_011529890.1:c.-386+1848_-386+1850delinsAGC	XP_011528192.1:n.-386+1848_-386+1850delinsAGC
XM_011529891.1:c.-386+1570_-386+1572delinsAGC	XP_011528193.1:n.-386+1570_-386+1572delinsAGC
NM_001362828.1:c.-386+1848_-386+1850delinsAGC	NP_001349757.1:n.-386+1848_-386+1850delinsAGC
XM_017028595.1:c.-386+1570_-386+1572delinsAGC	XP_016884084.1:n.-386+1570_-386+1572delinsAGC
NM_000754.4:c.-92+1848_-92+1850delinsAGC MANE Select	NP_000745.1:n.-92+1848_-92+1850delinsAGC
NM_001362828.2:c.-386+1848_-386+1850delinsAGC	NP_001349757.1:n.-386+1848_-386+1850delinsAGC