Canonical Allele Identifier: CA2396116227

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943825_19943827delinsCTG , CM000684.2:g.19943825_19943827delinsCTG	GRCh38
NC_000022.10:g.19931348_19931350delinsCTG , CM000684.1:g.19931348_19931350delinsCTG	GRCh37
NC_000022.9:g.18311348_18311350delinsCTG	NCBI36
NG_011526.1:g.7086_7088delinsCTG
NG_011835.1:g.3010_3012delinsCAG , LRG_417:g.3010_3012delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1928_-92+1930delinsCTG MANE Select	ENSP00000354511.6:n.-92+1928_-92+1930delinsCTG
ENST00000428707.2:c.-92+1928_-92+1930delinsCTG	ENSP00000387695.2:n.-92+1928_-92+1930delinsCTG
ENST00000676678.1:c.-92+2250_-92+2252delinsCTG	ENSP00000503719.1:n.-92+2250_-92+2252delinsCTG
ENST00000678769.1:c.-92+1928_-92+1930delinsCTG	ENSP00000503289.1:n.-92+1928_-92+1930delinsCTG
ENST00000678868.1:c.-276+1928_-276+1930delinsCTG	ENSP00000503583.1:n.-276+1928_-276+1930delinsCTG
ENST00000361682.10:c.-92+1928_-92+1930delinsCTG	ENSP00000354511.6:n.-92+1928_-92+1930delinsCTG
ENST00000403184.5:c.-92+1928_-92+1930delinsCTG	ENSP00000383966.1:n.-92+1928_-92+1930delinsCTG
ENST00000403710.5:c.-386+1928_-386+1930delinsCTG	ENSP00000385917.1:n.-386+1928_-386+1930delinsCTG
ENST00000407537.5:c.-270+1928_-270+1930delinsCTG	ENSP00000384654.2:n.-270+1928_-270+1930delinsCTG
ENST00000467943.5:n.105+1928_105+1930delinsCTG
NM_000754.3:c.-92+1928_-92+1930delinsCTG	NP_000745.1:n.-92+1928_-92+1930delinsCTG
XM_011529887.1:c.-92+1928_-92+1930delinsCTG	XP_011528189.1:n.-92+1928_-92+1930delinsCTG
XM_011529890.1:c.-386+1928_-386+1930delinsCTG	XP_011528192.1:n.-386+1928_-386+1930delinsCTG
XM_011529891.1:c.-386+1650_-386+1652delinsCTG	XP_011528193.1:n.-386+1650_-386+1652delinsCTG
NM_001362828.1:c.-386+1928_-386+1930delinsCTG	NP_001349757.1:n.-386+1928_-386+1930delinsCTG
XM_017028595.1:c.-386+1650_-386+1652delinsCTG	XP_016884084.1:n.-386+1650_-386+1652delinsCTG
NM_000754.4:c.-92+1928_-92+1930delinsCTG MANE Select	NP_000745.1:n.-92+1928_-92+1930delinsCTG
NM_001362828.2:c.-386+1928_-386+1930delinsCTG	NP_001349757.1:n.-386+1928_-386+1930delinsCTG