Canonical Allele Identifier: CA513370174

Gene: COMT

Linked Data

• dbSNP Id: rs1941785712
• gnomAD v3: 22-19943668-AAAAT-A
• gnomAD v4: 22-19943668-AAAAT-A
• MyVariant Identifiers: chr22:g.19931192_19931195del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943672_19943675del , CM000684.2:g.19943672_19943675del	GRCh38
NC_000022.10:g.19931195_19931198del , CM000684.1:g.19931195_19931198del	GRCh37
NC_000022.9:g.18311195_18311198del	NCBI36
NG_011526.1:g.6933_6936del
NG_011835.1:g.3165_3168del , LRG_417:g.3165_3168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1775_-92+1778del MANE Select	ENSP00000354511.6:n.-92+1775_-92+1778del
ENST00000428707.2:c.-92+1775_-92+1778del	ENSP00000387695.2:n.-92+1775_-92+1778del
ENST00000676678.1:c.-92+2097_-92+2100del	ENSP00000503719.1:n.-92+2097_-92+2100del
ENST00000678769.1:c.-92+1775_-92+1778del	ENSP00000503289.1:n.-92+1775_-92+1778del
ENST00000678868.1:c.-276+1775_-276+1778del	ENSP00000503583.1:n.-276+1775_-276+1778del
ENST00000361682.10:c.-92+1775_-92+1778del	ENSP00000354511.6:n.-92+1775_-92+1778del
ENST00000403184.5:c.-92+1775_-92+1778del	ENSP00000383966.1:n.-92+1775_-92+1778del
ENST00000403710.5:c.-386+1775_-386+1778del	ENSP00000385917.1:n.-386+1775_-386+1778del
ENST00000407537.5:c.-270+1775_-270+1778del	ENSP00000384654.2:n.-270+1775_-270+1778del
ENST00000467943.5:n.105+1775_105+1778del
NM_000754.3:c.-92+1775_-92+1778del	NP_000745.1:n.-92+1775_-92+1778del
XM_011529887.1:c.-92+1775_-92+1778del	XP_011528189.1:n.-92+1775_-92+1778del
XM_011529890.1:c.-386+1775_-386+1778del	XP_011528192.1:n.-386+1775_-386+1778del
XM_011529891.1:c.-386+1497_-386+1500del	XP_011528193.1:n.-386+1497_-386+1500del
NM_001362828.1:c.-386+1775_-386+1778del	NP_001349757.1:n.-386+1775_-386+1778del
XM_017028595.1:c.-386+1497_-386+1500del	XP_016884084.1:n.-386+1497_-386+1500del
NM_000754.4:c.-92+1775_-92+1778del MANE Select	NP_000745.1:n.-92+1775_-92+1778del
NM_001362828.2:c.-386+1775_-386+1778del	NP_001349757.1:n.-386+1775_-386+1778del