Canonical Allele Identifier: CA1024162593

Gene: COMT

Linked Data

• dbSNP Id: rs1941788936
• gnomAD v3: 22-19943748-A-AAG
• gnomAD v4: 22-19943748-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943748_19943749insAG , CM000684.2:g.19943748_19943749insAG	GRCh38
NC_000022.10:g.19931271_19931272insAG , CM000684.1:g.19931271_19931272insAG	GRCh37
NC_000022.9:g.18311271_18311272insAG	NCBI36
NG_011526.1:g.7009_7010insAG
NG_011835.1:g.3088_3089insCT , LRG_417:g.3088_3089insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.-92+1851_-92+1852insAG MANE Select	ENSP00000354511.6:n.-92+1851_-92+1852insAG
ENST00000428707.2:c.-92+1851_-92+1852insAG	ENSP00000387695.2:n.-92+1851_-92+1852insAG
ENST00000676678.1:c.-92+2173_-92+2174insAG	ENSP00000503719.1:n.-92+2173_-92+2174insAG
ENST00000678769.1:c.-92+1851_-92+1852insAG	ENSP00000503289.1:n.-92+1851_-92+1852insAG
ENST00000678868.1:c.-276+1851_-276+1852insAG	ENSP00000503583.1:n.-276+1851_-276+1852insAG
ENST00000361682.10:c.-92+1851_-92+1852insAG	ENSP00000354511.6:n.-92+1851_-92+1852insAG
ENST00000403184.5:c.-92+1851_-92+1852insAG	ENSP00000383966.1:n.-92+1851_-92+1852insAG
ENST00000403710.5:c.-386+1851_-386+1852insAG	ENSP00000385917.1:n.-386+1851_-386+1852insAG
ENST00000407537.5:c.-270+1851_-270+1852insAG	ENSP00000384654.2:n.-270+1851_-270+1852insAG
ENST00000467943.5:n.105+1851_105+1852insAG
NM_000754.3:c.-92+1851_-92+1852insAG	NP_000745.1:n.-92+1851_-92+1852insAG
XM_011529887.1:c.-92+1851_-92+1852insAG	XP_011528189.1:n.-92+1851_-92+1852insAG
XM_011529890.1:c.-386+1851_-386+1852insAG	XP_011528192.1:n.-386+1851_-386+1852insAG
XM_011529891.1:c.-386+1573_-386+1574insAG	XP_011528193.1:n.-386+1573_-386+1574insAG
NM_001362828.1:c.-386+1851_-386+1852insAG	NP_001349757.1:n.-386+1851_-386+1852insAG
XM_017028595.1:c.-386+1573_-386+1574insAG	XP_016884084.1:n.-386+1573_-386+1574insAG
NM_000754.4:c.-92+1851_-92+1852insAG MANE Select	NP_000745.1:n.-92+1851_-92+1852insAG
NM_001362828.2:c.-386+1851_-386+1852insAG	NP_001349757.1:n.-386+1851_-386+1852insAG