Canonical Allele Identifier: CA994238052

Gene: COMP

Linked Data

• gnomAD v3: 19-18787914-C-CTTTCTTTCTTTCCTTTT
• gnomAD v4: 19-18787914-C-CTTTCTTTCTTTCCTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTCTTTCCTTTTTTT , CM000681.2:g.18787917_18787918insCTTTCTTTCCTTTTTTT	GRCh38
NC_000019.9:g.18898726_18898727insCTTTCTTTCCTTTTTTT , CM000681.1:g.18898726_18898727insCTTTCTTTCCTTTTTTT	GRCh37
NC_000019.8:g.18759726_18759727insCTTTCTTTCCTTTTTTT	NCBI36
NG_007070.1:g.8391_8392insAAAAGGAAAGAAAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-265_976-264insAAAAGGAAAGAAAGAAA MANE Select	ENSP00000222271.2:n.976-265_976-264insAAAAGGAAAGAAAGAAA
ENST00000222271.6:c.976-265_976-264insAAAAGGAAAGAAAGAAA	ENSP00000222271.2:n.976-265_976-264insAAAAGGAAAGAAAGAAA
ENST00000425807.1:c.817-265_817-264insAAAAGGAAAGAAAGAAA	ENSP00000403792.1:n.817-265_817-264insAAAAGGAAAGAAAGAAA
ENST00000542601.6:c.877-265_877-264insAAAAGGAAAGAAAGAAA	ENSP00000439156.2:n.877-265_877-264insAAAAGGAAAGAAAGAAA
NM_000095.2:c.976-265_976-264insAAAAGGAAAGAAAGAAA	NP_000086.2:n.976-265_976-264insAAAAGGAAAGAAAGAAA
NM_000095.3:c.976-265_976-264insAAAAGGAAAGAAAGAAA MANE Select	NP_000086.2:n.976-265_976-264insAAAAGGAAAGAAAGAAA