Canonical Allele Identifier: CA751472418

Gene: COMT

Linked Data

• dbSNP Id: rs1475363598
• gnomAD v3: 22-19942552-G-GCCTGCCCTGCTAACAGA
• gnomAD v4: 22-19942552-G-GCCTGCCCTGCTAACAGA
• MyVariant Identifiers: chr22:g.19930075_19930076insCCTGCCCTGCTAACAGA (hg19) ; chr22:g.19942552_19942553insCCTGCCCTGCTAACAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19942558_19942574dup , CM000684.2:g.19942558_19942574dup	GRCh38
NC_000022.10:g.19930081_19930097dup , CM000684.1:g.19930081_19930097dup	GRCh37
NC_000022.9:g.18310081_18310097dup	NCBI36
NG_011526.1:g.5819_5835dup
NG_011835.1:g.4268_4284dup , LRG_417:g.4268_4284dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.-92+661_-92+677dup MANE Select	ENSP00000354511.6:n.-92+661_-92+677dup
ENST00000428707.2:c.-92+661_-92+677dup	ENSP00000387695.2:n.-92+661_-92+677dup
ENST00000676678.1:c.-92+983_-92+999dup	ENSP00000503719.1:n.-92+983_-92+999dup
ENST00000678769.1:c.-92+661_-92+677dup	ENSP00000503289.1:n.-92+661_-92+677dup
ENST00000678868.1:c.-276+661_-276+677dup	ENSP00000503583.1:n.-276+661_-276+677dup
ENST00000361682.10:c.-92+661_-92+677dup	ENSP00000354511.6:n.-92+661_-92+677dup
ENST00000403184.5:c.-92+661_-92+677dup	ENSP00000383966.1:n.-92+661_-92+677dup
ENST00000403710.5:c.-386+661_-386+677dup	ENSP00000385917.1:n.-386+661_-386+677dup
ENST00000407537.5:c.-270+661_-270+677dup	ENSP00000384654.2:n.-270+661_-270+677dup
ENST00000467943.5:n.105+661_105+677dup
NM_000754.3:c.-92+661_-92+677dup	NP_000745.1:n.-92+661_-92+677dup
XM_011529887.1:c.-92+661_-92+677dup	XP_011528189.1:n.-92+661_-92+677dup
XM_011529890.1:c.-386+661_-386+677dup	XP_011528192.1:n.-386+661_-386+677dup
XM_011529891.1:c.-386+383_-386+399dup	XP_011528193.1:n.-386+383_-386+399dup
NM_001362828.1:c.-386+661_-386+677dup	NP_001349757.1:n.-386+661_-386+677dup
XM_017028595.1:c.-386+383_-386+399dup	XP_016884084.1:n.-386+383_-386+399dup
NM_000754.4:c.-92+661_-92+677dup MANE Select	NP_000745.1:n.-92+661_-92+677dup
NM_001362828.2:c.-386+661_-386+677dup	NP_001349757.1:n.-386+661_-386+677dup