Canonical Allele Identifier: CA2396116126
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943664_19943665delinsTA , CM000684.2:g.19943664_19943665delinsTA GRCh38
NC_000022.10:g.19931187_19931188delinsTA , CM000684.1:g.19931187_19931188delinsTA GRCh37
NC_000022.9:g.18311187_18311188delinsTA NCBI36
NG_011526.1:g.6925_6926delinsTA
NG_011835.1:g.3172_3173delinsTA , LRG_417:g.3172_3173delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1767_-92+1768delinsTA MANE Select ENSP00000354511.6:n.-92+1767_-92+1768delinsTA
ENST00000428707.2:c.-92+1767_-92+1768delinsTA ENSP00000387695.2:n.-92+1767_-92+1768delinsTA
ENST00000676678.1:c.-92+2089_-92+2090delinsTA ENSP00000503719.1:n.-92+2089_-92+2090delinsTA
ENST00000678769.1:c.-92+1767_-92+1768delinsTA ENSP00000503289.1:n.-92+1767_-92+1768delinsTA
ENST00000678868.1:c.-276+1767_-276+1768delinsTA ENSP00000503583.1:n.-276+1767_-276+1768delinsTA
ENST00000361682.10:c.-92+1767_-92+1768delinsTA ENSP00000354511.6:n.-92+1767_-92+1768delinsTA
ENST00000403184.5:c.-92+1767_-92+1768delinsTA ENSP00000383966.1:n.-92+1767_-92+1768delinsTA
ENST00000403710.5:c.-386+1767_-386+1768delinsTA ENSP00000385917.1:n.-386+1767_-386+1768delinsTA
ENST00000407537.5:c.-270+1767_-270+1768delinsTA ENSP00000384654.2:n.-270+1767_-270+1768delinsTA
ENST00000467943.5:n.105+1767_105+1768delinsTA
NM_000754.3:c.-92+1767_-92+1768delinsTA NP_000745.1:n.-92+1767_-92+1768delinsTA
XM_011529887.1:c.-92+1767_-92+1768delinsTA XP_011528189.1:n.-92+1767_-92+1768delinsTA
XM_011529890.1:c.-386+1767_-386+1768delinsTA XP_011528192.1:n.-386+1767_-386+1768delinsTA
XM_011529891.1:c.-386+1489_-386+1490delinsTA XP_011528193.1:n.-386+1489_-386+1490delinsTA
NM_001362828.1:c.-386+1767_-386+1768delinsTA NP_001349757.1:n.-386+1767_-386+1768delinsTA
XM_017028595.1:c.-386+1489_-386+1490delinsTA XP_016884084.1:n.-386+1489_-386+1490delinsTA
NM_000754.4:c.-92+1767_-92+1768delinsTA MANE Select NP_000745.1:n.-92+1767_-92+1768delinsTA
NM_001362828.2:c.-386+1767_-386+1768delinsTA NP_001349757.1:n.-386+1767_-386+1768delinsTA