Canonical Allele Identifier: CA2396116163
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943715_19943721delinsTGATAAA , CM000684.2:g.19943715_19943721delinsTGATAAA GRCh38
NC_000022.10:g.19931238_19931244delinsTGATAAA , CM000684.1:g.19931238_19931244delinsTGATAAA GRCh37
NC_000022.9:g.18311238_18311244delinsTGATAAA NCBI36
NG_011526.1:g.6976_6982delinsTGATAAA
NG_011835.1:g.3116_3122delinsTTTATCA , LRG_417:g.3116_3122delinsTTTATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.-92+1818_-92+1824delinsTGATAAA MANE Select ENSP00000354511.6:n.-92+1818_-92+1824delinsTGATAAA
ENST00000428707.2:c.-92+1818_-92+1824delinsTGATAAA ENSP00000387695.2:n.-92+1818_-92+1824delinsTGATAAA
ENST00000676678.1:c.-92+2140_-92+2146delinsTGATAAA ENSP00000503719.1:n.-92+2140_-92+2146delinsTGATAAA
ENST00000678769.1:c.-92+1818_-92+1824delinsTGATAAA ENSP00000503289.1:n.-92+1818_-92+1824delinsTGATAAA
ENST00000678868.1:c.-276+1818_-276+1824delinsTGATAAA ENSP00000503583.1:n.-276+1818_-276+1824delinsTGATAAA
ENST00000361682.10:c.-92+1818_-92+1824delinsTGATAAA ENSP00000354511.6:n.-92+1818_-92+1824delinsTGATAAA
ENST00000403184.5:c.-92+1818_-92+1824delinsTGATAAA ENSP00000383966.1:n.-92+1818_-92+1824delinsTGATAAA
ENST00000403710.5:c.-386+1818_-386+1824delinsTGATAAA ENSP00000385917.1:n.-386+1818_-386+1824delinsTGATAAA
ENST00000407537.5:c.-270+1818_-270+1824delinsTGATAAA ENSP00000384654.2:n.-270+1818_-270+1824delinsTGATAAA
ENST00000467943.5:n.105+1818_105+1824delinsTGATAAA
NM_000754.3:c.-92+1818_-92+1824delinsTGATAAA NP_000745.1:n.-92+1818_-92+1824delinsTGATAAA
XM_011529887.1:c.-92+1818_-92+1824delinsTGATAAA XP_011528189.1:n.-92+1818_-92+1824delinsTGATAAA
XM_011529890.1:c.-386+1818_-386+1824delinsTGATAAA XP_011528192.1:n.-386+1818_-386+1824delinsTGATAAA
XM_011529891.1:c.-386+1540_-386+1546delinsTGATAAA XP_011528193.1:n.-386+1540_-386+1546delinsTGATAAA
NM_001362828.1:c.-386+1818_-386+1824delinsTGATAAA NP_001349757.1:n.-386+1818_-386+1824delinsTGATAAA
XM_017028595.1:c.-386+1540_-386+1546delinsTGATAAA XP_016884084.1:n.-386+1540_-386+1546delinsTGATAAA
NM_000754.4:c.-92+1818_-92+1824delinsTGATAAA MANE Select NP_000745.1:n.-92+1818_-92+1824delinsTGATAAA
NM_001362828.2:c.-386+1818_-386+1824delinsTGATAAA NP_001349757.1:n.-386+1818_-386+1824delinsTGATAAA