Canonical Allele Identifier: CA2396116119

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943651_19943653delinsAAT , CM000684.2:g.19943651_19943653delinsAAT	GRCh38
NC_000022.10:g.19931174_19931176delinsAAT , CM000684.1:g.19931174_19931176delinsAAT	GRCh37
NC_000022.9:g.18311174_18311176delinsAAT	NCBI36
NG_011526.1:g.6912_6914delinsAAT
NG_011835.1:g.3184_3186delinsATT , LRG_417:g.3184_3186delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1754_-92+1756delinsAAT MANE Select	ENSP00000354511.6:n.-92+1754_-92+1756delinsAAT
ENST00000428707.2:c.-92+1754_-92+1756delinsAAT	ENSP00000387695.2:n.-92+1754_-92+1756delinsAAT
ENST00000676678.1:c.-92+2076_-92+2078delinsAAT	ENSP00000503719.1:n.-92+2076_-92+2078delinsAAT
ENST00000678769.1:c.-92+1754_-92+1756delinsAAT	ENSP00000503289.1:n.-92+1754_-92+1756delinsAAT
ENST00000678868.1:c.-276+1754_-276+1756delinsAAT	ENSP00000503583.1:n.-276+1754_-276+1756delinsAAT
ENST00000361682.10:c.-92+1754_-92+1756delinsAAT	ENSP00000354511.6:n.-92+1754_-92+1756delinsAAT
ENST00000403184.5:c.-92+1754_-92+1756delinsAAT	ENSP00000383966.1:n.-92+1754_-92+1756delinsAAT
ENST00000403710.5:c.-386+1754_-386+1756delinsAAT	ENSP00000385917.1:n.-386+1754_-386+1756delinsAAT
ENST00000407537.5:c.-270+1754_-270+1756delinsAAT	ENSP00000384654.2:n.-270+1754_-270+1756delinsAAT
ENST00000467943.5:n.105+1754_105+1756delinsAAT
NM_000754.3:c.-92+1754_-92+1756delinsAAT	NP_000745.1:n.-92+1754_-92+1756delinsAAT
XM_011529887.1:c.-92+1754_-92+1756delinsAAT	XP_011528189.1:n.-92+1754_-92+1756delinsAAT
XM_011529890.1:c.-386+1754_-386+1756delinsAAT	XP_011528192.1:n.-386+1754_-386+1756delinsAAT
XM_011529891.1:c.-386+1476_-386+1478delinsAAT	XP_011528193.1:n.-386+1476_-386+1478delinsAAT
NM_001362828.1:c.-386+1754_-386+1756delinsAAT	NP_001349757.1:n.-386+1754_-386+1756delinsAAT
XM_017028595.1:c.-386+1476_-386+1478delinsAAT	XP_016884084.1:n.-386+1476_-386+1478delinsAAT
NM_000754.4:c.-92+1754_-92+1756delinsAAT MANE Select	NP_000745.1:n.-92+1754_-92+1756delinsAAT
NM_001362828.2:c.-386+1754_-386+1756delinsAAT	NP_001349757.1:n.-386+1754_-386+1756delinsAAT