Canonical Allele Identifier: CA9316285
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs758827483
ExAC: 19:18895942 GC / G
gnomAD v2: 19-18895942-GC-G
MyVariant Identifiers: chr19:g.18895943del (hg19) chr19:g.18785133del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785136del , CM000681.2:g.18785136del GRCh38
NC_000019.9:g.18895946del , CM000681.1:g.18895946del GRCh37
NC_000019.8:g.18756946del NCBI36
NG_007070.1:g.11172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1718-41del MANE Select ENSP00000222271.2:n.1718-41del
ENST00000222271.6:c.1718-41del ENSP00000222271.2:n.1718-41del
ENST00000425807.1:c.1559-41del ENSP00000403792.1:n.1559-41del
ENST00000542601.6:c.1619-41del ENSP00000439156.2:n.1619-41del
NM_000095.2:c.1718-41del NP_000086.2:n.1718-41del
NM_000095.3:c.1718-41del MANE Select NP_000086.2:n.1718-41del
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