Canonical Allele Identifier: CA2396116142
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943674_19943678delinsAAAAG , CM000684.2:g.19943674_19943678delinsAAAAG GRCh38
NC_000022.10:g.19931197_19931201delinsAAAAG , CM000684.1:g.19931197_19931201delinsAAAAG GRCh37
NC_000022.9:g.18311197_18311201delinsAAAAG NCBI36
NG_011526.1:g.6935_6939delinsAAAAG
NG_011835.1:g.3159_3163delinsCTTTT , LRG_417:g.3159_3163delinsCTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1777_-92+1781delinsAAAAG MANE Select ENSP00000354511.6:n.-92+1777_-92+1781delinsAAAAG
ENST00000428707.2:c.-92+1777_-92+1781delinsAAAAG ENSP00000387695.2:n.-92+1777_-92+1781delinsAAAAG
ENST00000676678.1:c.-92+2099_-92+2103delinsAAAAG ENSP00000503719.1:n.-92+2099_-92+2103delinsAAAAG
ENST00000678769.1:c.-92+1777_-92+1781delinsAAAAG ENSP00000503289.1:n.-92+1777_-92+1781delinsAAAAG
ENST00000678868.1:c.-276+1777_-276+1781delinsAAAAG ENSP00000503583.1:n.-276+1777_-276+1781delinsAAAAG
ENST00000361682.10:c.-92+1777_-92+1781delinsAAAAG ENSP00000354511.6:n.-92+1777_-92+1781delinsAAAAG
ENST00000403184.5:c.-92+1777_-92+1781delinsAAAAG ENSP00000383966.1:n.-92+1777_-92+1781delinsAAAAG
ENST00000403710.5:c.-386+1777_-386+1781delinsAAAAG ENSP00000385917.1:n.-386+1777_-386+1781delinsAAAAG
ENST00000407537.5:c.-270+1777_-270+1781delinsAAAAG ENSP00000384654.2:n.-270+1777_-270+1781delinsAAAAG
ENST00000467943.5:n.105+1777_105+1781delinsAAAAG
NM_000754.3:c.-92+1777_-92+1781delinsAAAAG NP_000745.1:n.-92+1777_-92+1781delinsAAAAG
XM_011529887.1:c.-92+1777_-92+1781delinsAAAAG XP_011528189.1:n.-92+1777_-92+1781delinsAAAAG
XM_011529890.1:c.-386+1777_-386+1781delinsAAAAG XP_011528192.1:n.-386+1777_-386+1781delinsAAAAG
XM_011529891.1:c.-386+1499_-386+1503delinsAAAAG XP_011528193.1:n.-386+1499_-386+1503delinsAAAAG
NM_001362828.1:c.-386+1777_-386+1781delinsAAAAG NP_001349757.1:n.-386+1777_-386+1781delinsAAAAG
XM_017028595.1:c.-386+1499_-386+1503delinsAAAAG XP_016884084.1:n.-386+1499_-386+1503delinsAAAAG
NM_000754.4:c.-92+1777_-92+1781delinsAAAAG MANE Select NP_000745.1:n.-92+1777_-92+1781delinsAAAAG
NM_001362828.2:c.-386+1777_-386+1781delinsAAAAG NP_001349757.1:n.-386+1777_-386+1781delinsAAAAG