Canonical Allele Identifier: CA994238067

Gene: COMP

Linked Data

• dbSNP Id: rs879447656
• gnomAD v3: 19-18787915-T-TTTCTTTC
• gnomAD v4: 19-18787915-T-TTTCTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTCTT , CM000681.2:g.18787917_18787918insCTTTCTT	GRCh38
NC_000019.9:g.18898726_18898727insCTTTCTT , CM000681.1:g.18898726_18898727insCTTTCTT	GRCh37
NC_000019.8:g.18759726_18759727insCTTTCTT	NCBI36
NG_007070.1:g.8390_8391insGAAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-266_976-265insGAAAGAA MANE Select	ENSP00000222271.2:n.976-266_976-265insGAAAGAA
ENST00000222271.6:c.976-266_976-265insGAAAGAA	ENSP00000222271.2:n.976-266_976-265insGAAAGAA
ENST00000425807.1:c.817-266_817-265insGAAAGAA	ENSP00000403792.1:n.817-266_817-265insGAAAGAA
ENST00000542601.6:c.877-266_877-265insGAAAGAA	ENSP00000439156.2:n.877-266_877-265insGAAAGAA
NM_000095.2:c.976-266_976-265insGAAAGAA	NP_000086.2:n.976-266_976-265insGAAAGAA
NM_000095.3:c.976-266_976-265insGAAAGAA MANE Select	NP_000086.2:n.976-266_976-265insGAAAGAA