Canonical Allele Identifier: CA16620814
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 420112
ClinVar RCV Id: RCV000486008
dbSNP Id: rs1064794294

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787604_18787609del , CM000681.2:g.18787604_18787609del GRCh38
NC_000019.9:g.18898413_18898418del , CM000681.1:g.18898413_18898418del GRCh37
NC_000019.8:g.18759413_18759418del NCBI36
NG_007070.1:g.8701_8706del

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1021_1026del MANE Select ENSP00000222271.2:p.Glu341_Asp342del
ENST00000222271.6:c.1021_1026del ENSP00000222271.2:p.Glu341_Asp342del
ENST00000425807.1:c.862_867del ENSP00000403792.1:p.Glu288_Asp289del
ENST00000542601.6:c.922_927del ENSP00000439156.2:p.Glu308_Asp309del
NM_000095.2:c.1021_1026del NP_000086.2:p.Glu341_Asp342del
NM_000095.3:c.1021_1026del MANE Select NP_000086.2:p.Glu341_Asp342del