Canonical Allele Identifier: CA638371267

Gene: COMT

Linked Data

• dbSNP Id: rs1474261298
• gnomAD v2: 22-19931238-TGATAAA-T
• gnomAD v3: 22-19943715-TGATAAA-T
• gnomAD v4: 22-19943715-TGATAAA-T
• MyVariant Identifiers: chr22:g.19931239_19931244del (hg19) ; chr22:g.19943716_19943721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943716_19943721del , CM000684.2:g.19943716_19943721del	GRCh38
NC_000022.10:g.19931239_19931244del , CM000684.1:g.19931239_19931244del	GRCh37
NC_000022.9:g.18311239_18311244del	NCBI36
NG_011526.1:g.6977_6982del
NG_011835.1:g.3116_3121del , LRG_417:g.3116_3121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1819_-92+1824del MANE Select	ENSP00000354511.6:n.-92+1819_-92+1824del
ENST00000428707.2:c.-92+1819_-92+1824del	ENSP00000387695.2:n.-92+1819_-92+1824del
ENST00000676678.1:c.-92+2141_-92+2146del	ENSP00000503719.1:n.-92+2141_-92+2146del
ENST00000678769.1:c.-92+1819_-92+1824del	ENSP00000503289.1:n.-92+1819_-92+1824del
ENST00000678868.1:c.-276+1819_-276+1824del	ENSP00000503583.1:n.-276+1819_-276+1824del
ENST00000361682.10:c.-92+1819_-92+1824del	ENSP00000354511.6:n.-92+1819_-92+1824del
ENST00000403184.5:c.-92+1819_-92+1824del	ENSP00000383966.1:n.-92+1819_-92+1824del
ENST00000403710.5:c.-386+1819_-386+1824del	ENSP00000385917.1:n.-386+1819_-386+1824del
ENST00000407537.5:c.-270+1819_-270+1824del	ENSP00000384654.2:n.-270+1819_-270+1824del
ENST00000467943.5:n.105+1819_105+1824del
NM_000754.3:c.-92+1819_-92+1824del	NP_000745.1:n.-92+1819_-92+1824del
XM_011529887.1:c.-92+1819_-92+1824del	XP_011528189.1:n.-92+1819_-92+1824del
XM_011529890.1:c.-386+1819_-386+1824del	XP_011528192.1:n.-386+1819_-386+1824del
XM_011529891.1:c.-386+1541_-386+1546del	XP_011528193.1:n.-386+1541_-386+1546del
NM_001362828.1:c.-386+1819_-386+1824del	NP_001349757.1:n.-386+1819_-386+1824del
XM_017028595.1:c.-386+1541_-386+1546del	XP_016884084.1:n.-386+1541_-386+1546del
NM_000754.4:c.-92+1819_-92+1824del MANE Select	NP_000745.1:n.-92+1819_-92+1824del
NM_001362828.2:c.-386+1819_-386+1824del	NP_001349757.1:n.-386+1819_-386+1824del