Canonical Allele Identifier: CA2396115711

Gene: COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19942723_19942724delinsCT , CM000684.2:g.19942723_19942724delinsCT	GRCh38
NC_000022.10:g.19930246_19930247delinsCT , CM000684.1:g.19930246_19930247delinsCT	GRCh37
NC_000022.9:g.18310246_18310247delinsCT	NCBI36
NG_011526.1:g.5984_5985delinsCT
NG_011835.1:g.4113_4114delinsAG , LRG_417:g.4113_4114delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.-92+826_-92+827delinsCT MANE Select	ENSP00000354511.6:n.-92+826_-92+827delins...
ENST00000428707.2:c.-92+826_-92+827delinsCT	ENSP00000387695.2:n.-92+826_-92+827delins...
ENST00000676678.1:c.-92+1148_-92+1149delinsCT	ENSP00000503719.1:n.-92+1148_-92+1149deli...
ENST00000678769.1:c.-92+826_-92+827delinsCT	ENSP00000503289.1:n.-92+826_-92+827delins...
ENST00000678868.1:c.-276+826_-276+827delinsCT	ENSP00000503583.1:n.-276+826_-276+827deli...
ENST00000361682.10:c.-92+826_-92+827delinsCT	ENSP00000354511.6:n.-92+826_-92+827delins...
ENST00000403184.5:c.-92+826_-92+827delinsCT	ENSP00000383966.1:n.-92+826_-92+827delins...
ENST00000403710.5:c.-386+826_-386+827delinsCT	ENSP00000385917.1:n.-386+826_-386+827deli...
ENST00000407537.5:c.-270+826_-270+827delinsCT	ENSP00000384654.2:n.-270+826_-270+827deli...
ENST00000467943.5:n.105+826_105+827delinsCT
NM_000754.3:c.-92+826_-92+827delinsCT	NP_000745.1:n.-92+826_-92+827delinsCT
XM_011529887.1:c.-92+826_-92+827delinsCT	XP_011528189.1:n.-92+826_-92+827delinsCT
XM_011529890.1:c.-386+826_-386+827delinsCT	XP_011528192.1:n.-386+826_-386+827delinsC...
XM_011529891.1:c.-386+548_-386+549delinsCT	XP_011528193.1:n.-386+548_-386+549delinsC...
NM_001362828.1:c.-386+826_-386+827delinsCT	NP_001349757.1:n.-386+826_-386+827delinsC...
XM_017028595.1:c.-386+548_-386+549delinsCT	XP_016884084.1:n.-386+548_-386+549delinsC...
NM_000754.4:c.-92+826_-92+827delinsCT MANE Select	NP_000745.1:n.-92+826_-92+827delinsCT
NM_001362828.2:c.-386+826_-386+827delinsCT	NP_001349757.1:n.-386+826_-386+827delinsC...