Canonical Allele Identifier: CA2396125989
Gene: COMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964058_19964118delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG , CM000684.2:g.19964058_19964118delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG GRCh38
NC_000022.10:g.19951581_19951641delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG , CM000684.1:g.19951581_19951641delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG GRCh37
NC_000022.9:g.18331581_18331641delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NCBI36
NG_011526.1:g.27319_27379delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG MANE Select ENSP00000354511.6:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000428707.2:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000387695.2:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000676678.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000503719.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000677397.1:c.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000503422.1:n.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000677470.1:n.224_284delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000677564.1:n.267-110_267-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000677675.1:n.284-110_284-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000678240.1:n.332-110_332-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000678255.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000504402.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000678769.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000503289.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000678868.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000503583.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000678945.1:n.294-52_302delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000207636.9:c.484-52_492delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000361682.10:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000354511.6:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000403184.5:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000383966.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000403710.5:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000385917.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000406520.7:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000385150.3:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000407537.5:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000384654.2:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000412786.5:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000403958.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000428707.1:c.62-110_62-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
ENST00000449653.5:c.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG ENSP00000416778.1:n.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTG...
ENST00000493893.1:n.222-110_222-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG
NM_000754.3:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_000745.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTG...
NM_001135161.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001128633.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_001135162.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001128634.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_007310.2:c.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_009294.1:n.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTG...
XM_011529885.1:c.598-110_598-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528187.1:n.598-110_598-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529886.1:c.598-110_598-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528188.1:n.598-110_598-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529887.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528189.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529888.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528190.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529889.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528191.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529890.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528192.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529891.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528193.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_001362828.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001349757.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_011529886.2:c.895-110_895-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_011528188.2:n.895-110_895-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
XM_017028595.1:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG XP_016884084.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_000754.4:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG MANE Select NP_000745.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTG...
NM_001135161.2:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001128633.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_001135162.2:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001128634.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_001362828.2:c.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_001349757.1:n.484-110_484-50delinsAGATGGCCTCCTGTCTGTGTGGGC...
NM_007310.3:c.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGG NP_009294.1:n.334-110_334-50delinsAGATGGCCTCCTGTCTGTGTGGGCGTG...