Canonical Allele Identifier: CA2396116174
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943736_19943738delinsCTA , CM000684.2:g.19943736_19943738delinsCTA GRCh38
NC_000022.10:g.19931259_19931261delinsCTA , CM000684.1:g.19931259_19931261delinsCTA GRCh37
NC_000022.9:g.18311259_18311261delinsCTA NCBI36
NG_011526.1:g.6997_6999delinsCTA
NG_011835.1:g.3099_3101delinsTAG , LRG_417:g.3099_3101delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1839_-92+1841delinsCTA MANE Select ENSP00000354511.6:n.-92+1839_-92+1841delinsCTA
ENST00000428707.2:c.-92+1839_-92+1841delinsCTA ENSP00000387695.2:n.-92+1839_-92+1841delinsCTA
ENST00000676678.1:c.-92+2161_-92+2163delinsCTA ENSP00000503719.1:n.-92+2161_-92+2163delinsCTA
ENST00000678769.1:c.-92+1839_-92+1841delinsCTA ENSP00000503289.1:n.-92+1839_-92+1841delinsCTA
ENST00000678868.1:c.-276+1839_-276+1841delinsCTA ENSP00000503583.1:n.-276+1839_-276+1841delinsCTA
ENST00000361682.10:c.-92+1839_-92+1841delinsCTA ENSP00000354511.6:n.-92+1839_-92+1841delinsCTA
ENST00000403184.5:c.-92+1839_-92+1841delinsCTA ENSP00000383966.1:n.-92+1839_-92+1841delinsCTA
ENST00000403710.5:c.-386+1839_-386+1841delinsCTA ENSP00000385917.1:n.-386+1839_-386+1841delinsCTA
ENST00000407537.5:c.-270+1839_-270+1841delinsCTA ENSP00000384654.2:n.-270+1839_-270+1841delinsCTA
ENST00000467943.5:n.105+1839_105+1841delinsCTA
NM_000754.3:c.-92+1839_-92+1841delinsCTA NP_000745.1:n.-92+1839_-92+1841delinsCTA
XM_011529887.1:c.-92+1839_-92+1841delinsCTA XP_011528189.1:n.-92+1839_-92+1841delinsCTA
XM_011529890.1:c.-386+1839_-386+1841delinsCTA XP_011528192.1:n.-386+1839_-386+1841delinsCTA
XM_011529891.1:c.-386+1561_-386+1563delinsCTA XP_011528193.1:n.-386+1561_-386+1563delinsCTA
NM_001362828.1:c.-386+1839_-386+1841delinsCTA NP_001349757.1:n.-386+1839_-386+1841delinsCTA
XM_017028595.1:c.-386+1561_-386+1563delinsCTA XP_016884084.1:n.-386+1561_-386+1563delinsCTA
NM_000754.4:c.-92+1839_-92+1841delinsCTA MANE Select NP_000745.1:n.-92+1839_-92+1841delinsCTA
NM_001362828.2:c.-386+1839_-386+1841delinsCTA NP_001349757.1:n.-386+1839_-386+1841delinsCTA