Canonical Allele Identifier: CA915952815
Gene: COMT HGNC NCBI

Linked Data

ClinVar Variation Id: 828961
ClinVar RCV Id: RCV001028875
dbSNP Id: rs1601530284

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964134del , CM000684.2:g.19964134del GRCh38
NC_000022.10:g.19951657del , CM000684.1:g.19951657del GRCh37
NC_000022.9:g.18331657del NCBI36
NG_011526.1:g.27395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.484-34del MANE Select ENSP00000354511.6:n.484-34del
ENST00000428707.2:c.484-34del ENSP00000387695.2:n.484-34del
ENST00000676678.1:c.484-34del ENSP00000503719.1:n.484-34del
ENST00000677397.1:c.334-34del ENSP00000503422.1:n.334-34del
ENST00000677470.1:n.300del
ENST00000677564.1:n.267-34del
ENST00000677675.1:n.284-34del
ENST00000678240.1:n.332-34del
ENST00000678255.1:c.484-34del ENSP00000504402.1:n.484-34del
ENST00000678769.1:c.484-34del ENSP00000503289.1:n.484-34del
ENST00000678868.1:c.484-34del ENSP00000503583.1:n.484-34del
ENST00000678945.1:n.318del
ENST00000207636.9:c.508del ENSP00000207636.5:p.Val170Ter
ENST00000361682.10:c.484-34del ENSP00000354511.6:n.484-34del
ENST00000403184.5:c.484-34del ENSP00000383966.1:n.484-34del
ENST00000403710.5:c.484-34del ENSP00000385917.1:n.484-34del
ENST00000406520.7:c.484-34del ENSP00000385150.3:n.484-34del
ENST00000407537.5:c.484-34del ENSP00000384654.2:n.484-34del
ENST00000412786.5:c.484-34del ENSP00000403958.1:n.484-34del
ENST00000428707.1:c.62-34del
ENST00000449653.5:c.334-34del ENSP00000416778.1:n.334-34del
ENST00000493893.1:n.222-34del
NM_000754.3:c.484-34del NP_000745.1:n.484-34del
NM_001135161.1:c.484-34del NP_001128633.1:n.484-34del
NM_001135162.1:c.484-34del NP_001128634.1:n.484-34del
NM_007310.2:c.334-34del NP_009294.1:n.334-34del
XM_011529885.1:c.598-34del XP_011528187.1:n.598-34del
XM_011529886.1:c.598-34del XP_011528188.1:n.598-34del
XM_011529887.1:c.484-34del XP_011528189.1:n.484-34del
XM_011529888.1:c.484-34del XP_011528190.1:n.484-34del
XM_011529889.1:c.484-34del XP_011528191.1:n.484-34del
XM_011529890.1:c.484-34del XP_011528192.1:n.484-34del
XM_011529891.1:c.484-34del XP_011528193.1:n.484-34del
NM_001362828.1:c.484-34del NP_001349757.1:n.484-34del
XM_011529886.2:c.895-34del XP_011528188.2:n.895-34del
XM_017028595.1:c.484-34del XP_016884084.1:n.484-34del
NM_000754.4:c.484-34del MANE Select NP_000745.1:n.484-34del
NM_001135161.2:c.484-34del NP_001128633.1:n.484-34del
NM_001135162.2:c.484-34del NP_001128634.1:n.484-34del
NM_001362828.2:c.484-34del NP_001349757.1:n.484-34del
NM_007310.3:c.334-34del NP_009294.1:n.334-34del