Canonical Allele Identifier: CA9316447

Gene: COMP

Linked Data

• dbSNP Id: rs775399260
• ExAC: 19:18896978 CAG / C
• gnomAD v2: 19-18896978-CAG-C
• MyVariant Identifiers: chr19:g.18896979_18896980del (hg19) ; chr19:g.18786169_18786170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786172_18786173del , CM000681.2:g.18786172_18786173del	GRCh38
NC_000019.9:g.18896982_18896983del , CM000681.1:g.18896982_18896983del	GRCh37
NC_000019.8:g.18757982_18757983del	NCBI36
NG_007070.1:g.10135_10136del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1308-24_1308-23del MANE Select	ENSP00000222271.2:n.1308-24_1308-23del
ENST00000222271.6:c.1308-24_1308-23del	ENSP00000222271.2:n.1308-24_1308-23del
ENST00000425807.1:c.1149-24_1149-23del	ENSP00000403792.1:n.1149-24_1149-23del
ENST00000542601.6:c.1209-24_1209-23del	ENSP00000439156.2:n.1209-24_1209-23del
ENST00000612179.1:n.558-24_558-23del
NM_000095.2:c.1308-24_1308-23del	NP_000086.2:n.1308-24_1308-23del
NM_000095.3:c.1308-24_1308-23del MANE Select	NP_000086.2:n.1308-24_1308-23del