Canonical Allele Identifier: CA2396116106
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943633_19943634delinsCT , CM000684.2:g.19943633_19943634delinsCT GRCh38
NC_000022.10:g.19931156_19931157delinsCT , CM000684.1:g.19931156_19931157delinsCT GRCh37
NC_000022.9:g.18311156_18311157delinsCT NCBI36
NG_011526.1:g.6894_6895delinsCT
NG_011835.1:g.3203_3204delinsAG , LRG_417:g.3203_3204delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1736_-92+1737delinsCT MANE Select ENSP00000354511.6:n.-92+1736_-92+1737delinsCT
ENST00000428707.2:c.-92+1736_-92+1737delinsCT ENSP00000387695.2:n.-92+1736_-92+1737delinsCT
ENST00000676678.1:c.-92+2058_-92+2059delinsCT ENSP00000503719.1:n.-92+2058_-92+2059delinsCT
ENST00000678769.1:c.-92+1736_-92+1737delinsCT ENSP00000503289.1:n.-92+1736_-92+1737delinsCT
ENST00000678868.1:c.-276+1736_-276+1737delinsCT ENSP00000503583.1:n.-276+1736_-276+1737delinsCT
ENST00000361682.10:c.-92+1736_-92+1737delinsCT ENSP00000354511.6:n.-92+1736_-92+1737delinsCT
ENST00000403184.5:c.-92+1736_-92+1737delinsCT ENSP00000383966.1:n.-92+1736_-92+1737delinsCT
ENST00000403710.5:c.-386+1736_-386+1737delinsCT ENSP00000385917.1:n.-386+1736_-386+1737delinsCT
ENST00000407537.5:c.-270+1736_-270+1737delinsCT ENSP00000384654.2:n.-270+1736_-270+1737delinsCT
ENST00000467943.5:n.105+1736_105+1737delinsCT
NM_000754.3:c.-92+1736_-92+1737delinsCT NP_000745.1:n.-92+1736_-92+1737delinsCT
XM_011529887.1:c.-92+1736_-92+1737delinsCT XP_011528189.1:n.-92+1736_-92+1737delinsCT
XM_011529890.1:c.-386+1736_-386+1737delinsCT XP_011528192.1:n.-386+1736_-386+1737delinsCT
XM_011529891.1:c.-386+1458_-386+1459delinsCT XP_011528193.1:n.-386+1458_-386+1459delinsCT
NM_001362828.1:c.-386+1736_-386+1737delinsCT NP_001349757.1:n.-386+1736_-386+1737delinsCT
XM_017028595.1:c.-386+1458_-386+1459delinsCT XP_016884084.1:n.-386+1458_-386+1459delinsCT
NM_000754.4:c.-92+1736_-92+1737delinsCT MANE Select NP_000745.1:n.-92+1736_-92+1737delinsCT
NM_001362828.2:c.-386+1736_-386+1737delinsCT NP_001349757.1:n.-386+1736_-386+1737delinsCT