Canonical Allele Identifier: CA2695228439
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2836442
ClinVar RCV Id: RCV003690084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787496_18787507del , CM000681.2:g.18787496_18787507del GRCh38
NC_000019.9:g.18898305_18898316del , CM000681.1:g.18898305_18898316del GRCh37
NC_000019.8:g.18759305_18759316del NCBI36
NG_007070.1:g.8803_8814del

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1123_1134del MANE Select ENSP00000222271.2:p.Ile375_Asp378del
ENST00000222271.6:c.1123_1134del ENSP00000222271.2:p.Ile375_Asp378del
ENST00000425807.1:c.964_975del ENSP00000403792.1:p.Ile322_Asp325del
ENST00000542601.6:c.1024_1035del ENSP00000439156.2:p.Ile342_Asp345del
NM_000095.2:c.1123_1134del NP_000086.2:p.Ile375_Asp378del
NM_000095.3:c.1123_1134del MANE Select NP_000086.2:p.Ile375_Asp378del
Search 100 bp 5'
Search 100 bp 3'