Canonical Allele Identifier: CA322112063

Gene: COMT

Linked Data

• dbSNP Id: rs1034087282
• gnomAD v2: 22-19931173-A-AT
• gnomAD v3: 22-19943650-A-AT
• gnomAD v4: 22-19943650-A-AT
• MyVariant Identifiers: chr22:g.19931173_19931174insT (hg19) ; chr22:g.19943650_19943651insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943650_19943651insT , CM000684.2:g.19943650_19943651insT	GRCh38
NC_000022.10:g.19931173_19931174insT , CM000684.1:g.19931173_19931174insT	GRCh37
NC_000022.9:g.18311173_18311174insT	NCBI36
NG_011526.1:g.6911_6912insT
NG_011835.1:g.3186_3187insA , LRG_417:g.3186_3187insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1753_-92+1754insT MANE Select	ENSP00000354511.6:n.-92+1753_-92+1754insT
ENST00000428707.2:c.-92+1753_-92+1754insT	ENSP00000387695.2:n.-92+1753_-92+1754insT
ENST00000676678.1:c.-92+2075_-92+2076insT	ENSP00000503719.1:n.-92+2075_-92+2076insT
ENST00000678769.1:c.-92+1753_-92+1754insT	ENSP00000503289.1:n.-92+1753_-92+1754insT
ENST00000678868.1:c.-276+1753_-276+1754insT	ENSP00000503583.1:n.-276+1753_-276+1754insT
ENST00000361682.10:c.-92+1753_-92+1754insT	ENSP00000354511.6:n.-92+1753_-92+1754insT
ENST00000403184.5:c.-92+1753_-92+1754insT	ENSP00000383966.1:n.-92+1753_-92+1754insT
ENST00000403710.5:c.-386+1753_-386+1754insT	ENSP00000385917.1:n.-386+1753_-386+1754insT
ENST00000407537.5:c.-270+1753_-270+1754insT	ENSP00000384654.2:n.-270+1753_-270+1754insT
ENST00000467943.5:n.105+1753_105+1754insT
NM_000754.3:c.-92+1753_-92+1754insT	NP_000745.1:n.-92+1753_-92+1754insT
XM_011529887.1:c.-92+1753_-92+1754insT	XP_011528189.1:n.-92+1753_-92+1754insT
XM_011529890.1:c.-386+1753_-386+1754insT	XP_011528192.1:n.-386+1753_-386+1754insT
XM_011529891.1:c.-386+1475_-386+1476insT	XP_011528193.1:n.-386+1475_-386+1476insT
NM_001362828.1:c.-386+1753_-386+1754insT	NP_001349757.1:n.-386+1753_-386+1754insT
XM_017028595.1:c.-386+1475_-386+1476insT	XP_016884084.1:n.-386+1475_-386+1476insT
NM_000754.4:c.-92+1753_-92+1754insT MANE Select	NP_000745.1:n.-92+1753_-92+1754insT
NM_001362828.2:c.-386+1753_-386+1754insT	NP_001349757.1:n.-386+1753_-386+1754insT