Canonical Allele Identifier: CA915952951
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 811449
ClinVar RCV Id: RCV001001307
dbSNP Id: rs1601055900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787615_18787629del , CM000681.2:g.18787615_18787629del GRCh38
NC_000019.9:g.18898424_18898438del , CM000681.1:g.18898424_18898438del GRCh37
NC_000019.8:g.18759424_18759438del NCBI36
NG_007070.1:g.8680_8694del

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1000_1014del MANE Select ENSP00000222271.2:p.Pro334_Asn338del
ENST00000222271.6:c.1000_1014del ENSP00000222271.2:p.Pro334_Asn338del
ENST00000425807.1:c.841_855del ENSP00000403792.1:p.Pro281_Asn285del
ENST00000542601.6:c.901_915del ENSP00000439156.2:p.Pro301_Asn305del
NM_000095.2:c.1000_1014del NP_000086.2:p.Pro334_Asn338del
NM_000095.3:c.1000_1014del MANE Select NP_000086.2:p.Pro334_Asn338del
Search 100 bp 5'
Search 100 bp 3'