Canonical Allele Identifier: CA9316444

Gene: COMP

Linked Data

• dbSNP Id: rs759742248
• ExAC: 19:18896961 AGTG / A
• gnomAD v2: 19-18896961-AGTG-A
• gnomAD v3: 19-18786151-AGTG-A
• gnomAD v4: 19-18786151-AGTG-A
• MyVariant Identifiers: chr19:g.18896962_18896964del (hg19) ; chr19:g.18786152_18786154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786153_18786155del , CM000681.2:g.18786153_18786155del	GRCh38
NC_000019.9:g.18896963_18896965del , CM000681.1:g.18896963_18896965del	GRCh37
NC_000019.8:g.18757963_18757965del	NCBI36
NG_007070.1:g.10151_10153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1308-8_1308-6del MANE Select	ENSP00000222271.2:n.1308-8_1308-6del
ENST00000222271.6:c.1308-8_1308-6del	ENSP00000222271.2:n.1308-8_1308-6del
ENST00000425807.1:c.1149-8_1149-6del	ENSP00000403792.1:n.1149-8_1149-6del
ENST00000542601.6:c.1209-8_1209-6del	ENSP00000439156.2:n.1209-8_1209-6del
ENST00000612179.1:n.558-8_558-6del
NM_000095.2:c.1308-8_1308-6del	NP_000086.2:n.1308-8_1308-6del
NM_000095.3:c.1308-8_1308-6del MANE Select	NP_000086.2:n.1308-8_1308-6del