Canonical Allele Identifier: CA751472868

Gene: COMT

Linked Data

• dbSNP Id: rs1234741957
• gnomAD v3: 22-19943858-TGTG-T
• gnomAD v4: 22-19943858-TGTG-T
• MyVariant Identifiers: chr22:g.19931382_19931384del (hg19) ; chr22:g.19943859_19943861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943861_19943863del , CM000684.2:g.19943861_19943863del	GRCh38
NC_000022.10:g.19931384_19931386del , CM000684.1:g.19931384_19931386del	GRCh37
NC_000022.9:g.18311384_18311386del	NCBI36
NG_011526.1:g.7122_7124del
NG_011835.1:g.2976_2978del , LRG_417:g.2976_2978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1964_-92+1966del MANE Select	ENSP00000354511.6:n.-92+1964_-92+1966del
ENST00000428707.2:c.-92+1964_-92+1966del	ENSP00000387695.2:n.-92+1964_-92+1966del
ENST00000676678.1:c.-92+2286_-92+2288del	ENSP00000503719.1:n.-92+2286_-92+2288del
ENST00000678769.1:c.-92+1964_-92+1966del	ENSP00000503289.1:n.-92+1964_-92+1966del
ENST00000678868.1:c.-276+1964_-276+1966del	ENSP00000503583.1:n.-276+1964_-276+1966del
ENST00000361682.10:c.-92+1964_-92+1966del	ENSP00000354511.6:n.-92+1964_-92+1966del
ENST00000403184.5:c.-92+1964_-92+1966del	ENSP00000383966.1:n.-92+1964_-92+1966del
ENST00000403710.5:c.-386+1964_-386+1966del	ENSP00000385917.1:n.-386+1964_-386+1966del
ENST00000407537.5:c.-270+1964_-270+1966del	ENSP00000384654.2:n.-270+1964_-270+1966del
ENST00000467943.5:n.105+1964_105+1966del
NM_000754.3:c.-92+1964_-92+1966del	NP_000745.1:n.-92+1964_-92+1966del
XM_011529887.1:c.-92+1964_-92+1966del	XP_011528189.1:n.-92+1964_-92+1966del
XM_011529890.1:c.-386+1964_-386+1966del	XP_011528192.1:n.-386+1964_-386+1966del
XM_011529891.1:c.-386+1686_-386+1688del	XP_011528193.1:n.-386+1686_-386+1688del
NM_001362828.1:c.-386+1964_-386+1966del	NP_001349757.1:n.-386+1964_-386+1966del
XM_017028595.1:c.-386+1686_-386+1688del	XP_016884084.1:n.-386+1686_-386+1688del
NM_000754.4:c.-92+1964_-92+1966del MANE Select	NP_000745.1:n.-92+1964_-92+1966del
NM_001362828.2:c.-386+1964_-386+1966del	NP_001349757.1:n.-386+1964_-386+1966del