Canonical Allele Identifier: CA632626640

Gene: COMP

Linked Data

• dbSNP Id: rs1282023236
• gnomAD v2: 19-18896769-CCGTACTGTCCG-C
• gnomAD v4: 19-18785959-CCGTACTGTCCG-C
• MyVariant Identifiers: chr19:g.18896770_18896780del (hg19) ; chr19:g.18785960_18785970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785963_18785973del , CM000681.2:g.18785963_18785973del	GRCh38
NC_000019.9:g.18896773_18896783del , CM000681.1:g.18896773_18896783del	GRCh37
NC_000019.8:g.18757773_18757783del	NCBI36
NG_007070.1:g.10335_10345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1484_1489+5del
ENST00000222271.6:c.1484_1489+5del
ENST00000425807.1:c.1325_1330+5del
ENST00000542601.6:c.1385_1390+5del
NM_000095.2:c.1484_1489+5del
NM_000095.3:c.1484_1489+5del