Canonical Allele Identifier: CA2396115626
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19942519_19942536delinsTGGGAATGTTAGAGAAAG , CM000684.2:g.19942519_19942536delinsTGGGAATGTTAGAGAAAG GRCh38
NC_000022.10:g.19930042_19930059delinsTGGGAATGTTAGAGAAAG , CM000684.1:g.19930042_19930059delinsTGGGAATGTTAGAGAAAG GRCh37
NC_000022.9:g.18310042_18310059delinsTGGGAATGTTAGAGAAAG NCBI36
NG_011526.1:g.5780_5797delinsTGGGAATGTTAGAGAAAG
NG_011835.1:g.4301_4318delinsCTTTCTCTAACATTCCCA , LRG_417:g.4301_4318delinsCTTTCTCTAACATTCCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000361682.11:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG MANE Select ENSP00000354511.6:n.-92+622_-92+639delins...
ENST00000428707.2:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG ENSP00000387695.2:n.-92+622_-92+639delins...
ENST00000676678.1:c.-92+944_-92+961delinsTGGGAATGTTAGAGAAAG ENSP00000503719.1:n.-92+944_-92+961delins...
ENST00000678769.1:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG ENSP00000503289.1:n.-92+622_-92+639delins...
ENST00000678868.1:c.-276+622_-276+639delinsTGGGAATGTTAGAGAAAG ENSP00000503583.1:n.-276+622_-276+639deli...
ENST00000361682.10:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG ENSP00000354511.6:n.-92+622_-92+639delins...
ENST00000403184.5:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG ENSP00000383966.1:n.-92+622_-92+639delins...
ENST00000403710.5:c.-386+622_-386+639delinsTGGGAATGTTAGAGAAAG ENSP00000385917.1:n.-386+622_-386+639deli...
ENST00000407537.5:c.-270+622_-270+639delinsTGGGAATGTTAGAGAAAG ENSP00000384654.2:n.-270+622_-270+639deli...
ENST00000467943.5:n.105+622_105+639delinsTGGGAATGTTAGAGAAAG
NM_000754.3:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG NP_000745.1:n.-92+622_-92+639delinsTGGGAA...
XM_011529887.1:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG XP_011528189.1:n.-92+622_-92+639delinsTGG...
XM_011529890.1:c.-386+622_-386+639delinsTGGGAATGTTAGAGAAAG XP_011528192.1:n.-386+622_-386+639delinsT...
XM_011529891.1:c.-386+344_-386+361delinsTGGGAATGTTAGAGAAAG XP_011528193.1:n.-386+344_-386+361delinsT...
NM_001362828.1:c.-386+622_-386+639delinsTGGGAATGTTAGAGAAAG NP_001349757.1:n.-386+622_-386+639delinsT...
XM_017028595.1:c.-386+344_-386+361delinsTGGGAATGTTAGAGAAAG XP_016884084.1:n.-386+344_-386+361delinsT...
NM_000754.4:c.-92+622_-92+639delinsTGGGAATGTTAGAGAAAG MANE Select NP_000745.1:n.-92+622_-92+639delinsTGGGAA...
NM_001362828.2:c.-386+622_-386+639delinsTGGGAATGTTAGAGAAAG NP_001349757.1:n.-386+622_-386+639delinsT...