Canonical Allele Identifier: CA2396115997
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943376_19943377delinsAG , CM000684.2:g.19943376_19943377delinsAG GRCh38
NC_000022.10:g.19930899_19930900delinsAG , CM000684.1:g.19930899_19930900delinsAG GRCh37
NC_000022.9:g.18310899_18310900delinsAG NCBI36
NG_011526.1:g.6637_6638delinsAG
NG_011835.1:g.3460_3461delinsCT , LRG_417:g.3460_3461delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1479_-92+1480delinsAG MANE Select ENSP00000354511.6:n.-92+1479_-92+1480delinsAG
ENST00000428707.2:c.-92+1479_-92+1480delinsAG ENSP00000387695.2:n.-92+1479_-92+1480delinsAG
ENST00000676678.1:c.-92+1801_-92+1802delinsAG ENSP00000503719.1:n.-92+1801_-92+1802delinsAG
ENST00000678769.1:c.-92+1479_-92+1480delinsAG ENSP00000503289.1:n.-92+1479_-92+1480delinsAG
ENST00000678868.1:c.-276+1479_-276+1480delinsAG ENSP00000503583.1:n.-276+1479_-276+1480delinsAG
ENST00000361682.10:c.-92+1479_-92+1480delinsAG ENSP00000354511.6:n.-92+1479_-92+1480delinsAG
ENST00000403184.5:c.-92+1479_-92+1480delinsAG ENSP00000383966.1:n.-92+1479_-92+1480delinsAG
ENST00000403710.5:c.-386+1479_-386+1480delinsAG ENSP00000385917.1:n.-386+1479_-386+1480delinsAG
ENST00000407537.5:c.-270+1479_-270+1480delinsAG ENSP00000384654.2:n.-270+1479_-270+1480delinsAG
ENST00000467943.5:n.105+1479_105+1480delinsAG
NM_000754.3:c.-92+1479_-92+1480delinsAG NP_000745.1:n.-92+1479_-92+1480delinsAG
XM_011529887.1:c.-92+1479_-92+1480delinsAG XP_011528189.1:n.-92+1479_-92+1480delinsAG
XM_011529890.1:c.-386+1479_-386+1480delinsAG XP_011528192.1:n.-386+1479_-386+1480delinsAG
XM_011529891.1:c.-386+1201_-386+1202delinsAG XP_011528193.1:n.-386+1201_-386+1202delinsAG
NM_001362828.1:c.-386+1479_-386+1480delinsAG NP_001349757.1:n.-386+1479_-386+1480delinsAG
XM_017028595.1:c.-386+1201_-386+1202delinsAG XP_016884084.1:n.-386+1201_-386+1202delinsAG
NM_000754.4:c.-92+1479_-92+1480delinsAG MANE Select NP_000745.1:n.-92+1479_-92+1480delinsAG
NM_001362828.2:c.-386+1479_-386+1480delinsAG NP_001349757.1:n.-386+1479_-386+1480delinsAG