Canonical Allele Identifier: CA2396116108
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943637_19943638delinsCT , CM000684.2:g.19943637_19943638delinsCT GRCh38
NC_000022.10:g.19931160_19931161delinsCT , CM000684.1:g.19931160_19931161delinsCT GRCh37
NC_000022.9:g.18311160_18311161delinsCT NCBI36
NG_011526.1:g.6898_6899delinsCT
NG_011835.1:g.3199_3200delinsAG , LRG_417:g.3199_3200delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1740_-92+1741delinsCT MANE Select ENSP00000354511.6:n.-92+1740_-92+1741delinsCT
ENST00000428707.2:c.-92+1740_-92+1741delinsCT ENSP00000387695.2:n.-92+1740_-92+1741delinsCT
ENST00000676678.1:c.-92+2062_-92+2063delinsCT ENSP00000503719.1:n.-92+2062_-92+2063delinsCT
ENST00000678769.1:c.-92+1740_-92+1741delinsCT ENSP00000503289.1:n.-92+1740_-92+1741delinsCT
ENST00000678868.1:c.-276+1740_-276+1741delinsCT ENSP00000503583.1:n.-276+1740_-276+1741delinsCT
ENST00000361682.10:c.-92+1740_-92+1741delinsCT ENSP00000354511.6:n.-92+1740_-92+1741delinsCT
ENST00000403184.5:c.-92+1740_-92+1741delinsCT ENSP00000383966.1:n.-92+1740_-92+1741delinsCT
ENST00000403710.5:c.-386+1740_-386+1741delinsCT ENSP00000385917.1:n.-386+1740_-386+1741delinsCT
ENST00000407537.5:c.-270+1740_-270+1741delinsCT ENSP00000384654.2:n.-270+1740_-270+1741delinsCT
ENST00000467943.5:n.105+1740_105+1741delinsCT
NM_000754.3:c.-92+1740_-92+1741delinsCT NP_000745.1:n.-92+1740_-92+1741delinsCT
XM_011529887.1:c.-92+1740_-92+1741delinsCT XP_011528189.1:n.-92+1740_-92+1741delinsCT
XM_011529890.1:c.-386+1740_-386+1741delinsCT XP_011528192.1:n.-386+1740_-386+1741delinsCT
XM_011529891.1:c.-386+1462_-386+1463delinsCT XP_011528193.1:n.-386+1462_-386+1463delinsCT
NM_001362828.1:c.-386+1740_-386+1741delinsCT NP_001349757.1:n.-386+1740_-386+1741delinsCT
XM_017028595.1:c.-386+1462_-386+1463delinsCT XP_016884084.1:n.-386+1462_-386+1463delinsCT
NM_000754.4:c.-92+1740_-92+1741delinsCT MANE Select NP_000745.1:n.-92+1740_-92+1741delinsCT
NM_001362828.2:c.-386+1740_-386+1741delinsCT NP_001349757.1:n.-386+1740_-386+1741delinsCT