Canonical Allele Identifier: CA751472781

Gene: COMT

Linked Data

• dbSNP Id: rs1555918101
• gnomAD v3: 22-19943650-A-AAT
• gnomAD v4: 22-19943650-A-AAT
• MyVariant Identifiers: chr22:g.19931173_19931174insAT (hg19) ; chr22:g.19943650_19943651insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943651_19943652insTA , CM000684.2:g.19943651_19943652insTA	GRCh38
NC_000022.10:g.19931174_19931175insTA , CM000684.1:g.19931174_19931175insTA	GRCh37
NC_000022.9:g.18311174_18311175insTA	NCBI36
NG_011526.1:g.6912_6913insTA
NG_011835.1:g.3186_3187insAT , LRG_417:g.3186_3187insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1754_-92+1755insTA MANE Select	ENSP00000354511.6:n.-92+1754_-92+1755insTA
ENST00000428707.2:c.-92+1754_-92+1755insTA	ENSP00000387695.2:n.-92+1754_-92+1755insTA
ENST00000676678.1:c.-92+2076_-92+2077insTA	ENSP00000503719.1:n.-92+2076_-92+2077insTA
ENST00000678769.1:c.-92+1754_-92+1755insTA	ENSP00000503289.1:n.-92+1754_-92+1755insTA
ENST00000678868.1:c.-276+1754_-276+1755insTA	ENSP00000503583.1:n.-276+1754_-276+1755insTA
ENST00000361682.10:c.-92+1754_-92+1755insTA	ENSP00000354511.6:n.-92+1754_-92+1755insTA
ENST00000403184.5:c.-92+1754_-92+1755insTA	ENSP00000383966.1:n.-92+1754_-92+1755insTA
ENST00000403710.5:c.-386+1754_-386+1755insTA	ENSP00000385917.1:n.-386+1754_-386+1755insTA
ENST00000407537.5:c.-270+1754_-270+1755insTA	ENSP00000384654.2:n.-270+1754_-270+1755insTA
ENST00000467943.5:n.105+1754_105+1755insTA
NM_000754.3:c.-92+1754_-92+1755insTA	NP_000745.1:n.-92+1754_-92+1755insTA
XM_011529887.1:c.-92+1754_-92+1755insTA	XP_011528189.1:n.-92+1754_-92+1755insTA
XM_011529890.1:c.-386+1754_-386+1755insTA	XP_011528192.1:n.-386+1754_-386+1755insTA
XM_011529891.1:c.-386+1476_-386+1477insTA	XP_011528193.1:n.-386+1476_-386+1477insTA
NM_001362828.1:c.-386+1754_-386+1755insTA	NP_001349757.1:n.-386+1754_-386+1755insTA
XM_017028595.1:c.-386+1476_-386+1477insTA	XP_016884084.1:n.-386+1476_-386+1477insTA
NM_000754.4:c.-92+1754_-92+1755insTA MANE Select	NP_000745.1:n.-92+1754_-92+1755insTA
NM_001362828.2:c.-386+1754_-386+1755insTA	NP_001349757.1:n.-386+1754_-386+1755insTA