Canonical Allele Identifier: CA2589500901

Gene: COMT

Linked Data

• gnomAD v3: 22-19942436-TC-T
• gnomAD v4: 22-19942436-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19942439del , CM000684.2:g.19942439del	GRCh38
NC_000022.10:g.19929962del , CM000684.1:g.19929962del	GRCh37
NC_000022.9:g.18309962del	NCBI36
NG_011526.1:g.5700del
NG_011835.1:g.4400del , LRG_417:g.4400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+542del MANE Select	ENSP00000354511.6:n.-92+542del
ENST00000428707.2:c.-92+542del	ENSP00000387695.2:n.-92+542del
ENST00000676678.1:c.-92+864del	ENSP00000503719.1:n.-92+864del
ENST00000678769.1:c.-92+542del	ENSP00000503289.1:n.-92+542del
ENST00000678868.1:c.-276+542del	ENSP00000503583.1:n.-276+542del
ENST00000361682.10:c.-92+542del	ENSP00000354511.6:n.-92+542del
ENST00000403184.5:c.-92+542del	ENSP00000383966.1:n.-92+542del
ENST00000403710.5:c.-386+542del	ENSP00000385917.1:n.-386+542del
ENST00000407537.5:c.-270+542del	ENSP00000384654.2:n.-270+542del
ENST00000467943.5:n.105+542del
NM_000754.3:c.-92+542del	NP_000745.1:n.-92+542del
XM_011529887.1:c.-92+542del	XP_011528189.1:n.-92+542del
XM_011529890.1:c.-386+542del	XP_011528192.1:n.-386+542del
XM_011529891.1:c.-386+264del	XP_011528193.1:n.-386+264del
NM_001362828.1:c.-386+542del	NP_001349757.1:n.-386+542del
XM_017028595.1:c.-386+264del	XP_016884084.1:n.-386+264del
NM_000754.4:c.-92+542del MANE Select	NP_000745.1:n.-92+542del
NM_001362828.2:c.-386+542del	NP_001349757.1:n.-386+542del