Canonical Allele Identifier: CA2573156202
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1675213
ClinVar RCV Id: RCV002210947
dbSNP Id: rs2145902176

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787525_18787530del , CM000681.2:g.18787525_18787530del GRCh38
NC_000019.9:g.18898334_18898339del , CM000681.1:g.18898334_18898339del GRCh37
NC_000019.8:g.18759334_18759339del NCBI36
NG_007070.1:g.8779_8784del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1099_1104del MANE Select ENSP00000222271.2:p.Arg367_Gly368del
ENST00000222271.6:c.1099_1104del ENSP00000222271.2:p.Arg367_Gly368del
ENST00000425807.1:c.940_945del ENSP00000403792.1:p.Arg314_Gly315del
ENST00000542601.6:c.1000_1005del ENSP00000439156.2:p.Arg334_Gly335del
NM_000095.2:c.1099_1104del NP_000086.2:p.Arg367_Gly368del
NM_000095.3:c.1099_1104del MANE Select NP_000086.2:p.Arg367_Gly368del