Canonical Allele Identifier: CA2396115710
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19942720_19942721delinsTA , CM000684.2:g.19942720_19942721delinsTA GRCh38
NC_000022.10:g.19930243_19930244delinsTA , CM000684.1:g.19930243_19930244delinsTA GRCh37
NC_000022.9:g.18310243_18310244delinsTA NCBI36
NG_011526.1:g.5981_5982delinsTA
NG_011835.1:g.4116_4117delinsTA , LRG_417:g.4116_4117delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000361682.11:c.-92+823_-92+824delinsTA MANE Select ENSP00000354511.6:n.-92+823_-92+824delins...
ENST00000428707.2:c.-92+823_-92+824delinsTA ENSP00000387695.2:n.-92+823_-92+824delins...
ENST00000676678.1:c.-92+1145_-92+1146delinsTA ENSP00000503719.1:n.-92+1145_-92+1146deli...
ENST00000678769.1:c.-92+823_-92+824delinsTA ENSP00000503289.1:n.-92+823_-92+824delins...
ENST00000678868.1:c.-276+823_-276+824delinsTA ENSP00000503583.1:n.-276+823_-276+824deli...
ENST00000361682.10:c.-92+823_-92+824delinsTA ENSP00000354511.6:n.-92+823_-92+824delins...
ENST00000403184.5:c.-92+823_-92+824delinsTA ENSP00000383966.1:n.-92+823_-92+824delins...
ENST00000403710.5:c.-386+823_-386+824delinsTA ENSP00000385917.1:n.-386+823_-386+824deli...
ENST00000407537.5:c.-270+823_-270+824delinsTA ENSP00000384654.2:n.-270+823_-270+824deli...
ENST00000467943.5:n.105+823_105+824delinsTA
NM_000754.3:c.-92+823_-92+824delinsTA NP_000745.1:n.-92+823_-92+824delinsTA
XM_011529887.1:c.-92+823_-92+824delinsTA XP_011528189.1:n.-92+823_-92+824delinsTA
XM_011529890.1:c.-386+823_-386+824delinsTA XP_011528192.1:n.-386+823_-386+824delinsT...
XM_011529891.1:c.-386+545_-386+546delinsTA XP_011528193.1:n.-386+545_-386+546delinsT...
NM_001362828.1:c.-386+823_-386+824delinsTA NP_001349757.1:n.-386+823_-386+824delinsT...
XM_017028595.1:c.-386+545_-386+546delinsTA XP_016884084.1:n.-386+545_-386+546delinsT...
NM_000754.4:c.-92+823_-92+824delinsTA MANE Select NP_000745.1:n.-92+823_-92+824delinsTA
NM_001362828.2:c.-386+823_-386+824delinsTA NP_001349757.1:n.-386+823_-386+824delinsT...