Canonical Allele Identifier: CA1024162580

Gene: COMT

Linked Data

• dbSNP Id: rs1941788698
• gnomAD v3: 22-19943745-AGC-A
• gnomAD v4: 22-19943745-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943746_19943747del , CM000684.2:g.19943746_19943747del	GRCh38
NC_000022.10:g.19931269_19931270del , CM000684.1:g.19931269_19931270del	GRCh37
NC_000022.9:g.18311269_18311270del	NCBI36
NG_011526.1:g.7007_7008del
NG_011835.1:g.3090_3091del , LRG_417:g.3090_3091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1849_-92+1850del MANE Select	ENSP00000354511.6:n.-92+1849_-92+1850del
ENST00000428707.2:c.-92+1849_-92+1850del	ENSP00000387695.2:n.-92+1849_-92+1850del
ENST00000676678.1:c.-92+2171_-92+2172del	ENSP00000503719.1:n.-92+2171_-92+2172del
ENST00000678769.1:c.-92+1849_-92+1850del	ENSP00000503289.1:n.-92+1849_-92+1850del
ENST00000678868.1:c.-276+1849_-276+1850del	ENSP00000503583.1:n.-276+1849_-276+1850del
ENST00000361682.10:c.-92+1849_-92+1850del	ENSP00000354511.6:n.-92+1849_-92+1850del
ENST00000403184.5:c.-92+1849_-92+1850del	ENSP00000383966.1:n.-92+1849_-92+1850del
ENST00000403710.5:c.-386+1849_-386+1850del	ENSP00000385917.1:n.-386+1849_-386+1850del
ENST00000407537.5:c.-270+1849_-270+1850del	ENSP00000384654.2:n.-270+1849_-270+1850del
ENST00000467943.5:n.105+1849_105+1850del
NM_000754.3:c.-92+1849_-92+1850del	NP_000745.1:n.-92+1849_-92+1850del
XM_011529887.1:c.-92+1849_-92+1850del	XP_011528189.1:n.-92+1849_-92+1850del
XM_011529890.1:c.-386+1849_-386+1850del	XP_011528192.1:n.-386+1849_-386+1850del
XM_011529891.1:c.-386+1571_-386+1572del	XP_011528193.1:n.-386+1571_-386+1572del
NM_001362828.1:c.-386+1849_-386+1850del	NP_001349757.1:n.-386+1849_-386+1850del
XM_017028595.1:c.-386+1571_-386+1572del	XP_016884084.1:n.-386+1571_-386+1572del
NM_000754.4:c.-92+1849_-92+1850del MANE Select	NP_000745.1:n.-92+1849_-92+1850del
NM_001362828.2:c.-386+1849_-386+1850del	NP_001349757.1:n.-386+1849_-386+1850del