Canonical Allele Identifier: CA994238137
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1384339637
gnomAD v3: 19-18787920-T-TCTTTCTTTC
gnomAD v4: 19-18787920-T-TCTTTCTTTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787920_18787921insCTTTCTTTC , CM000681.2:g.18787920_18787921insCTTTCTTTC GRCh38
NC_000019.9:g.18898729_18898730insCTTTCTTTC , CM000681.1:g.18898729_18898730insCTTTCTTTC GRCh37
NC_000019.8:g.18759729_18759730insCTTTCTTTC NCBI36
NG_007070.1:g.8385_8386insGAAAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-271_976-270insGAAAGAAAG MANE Select ENSP00000222271.2:n.976-271_976-270insGAAAGAAAG
ENST00000222271.6:c.976-271_976-270insGAAAGAAAG ENSP00000222271.2:n.976-271_976-270insGAAAGAAAG
ENST00000425807.1:c.817-271_817-270insGAAAGAAAG ENSP00000403792.1:n.817-271_817-270insGAAAGAAAG
ENST00000542601.6:c.877-271_877-270insGAAAGAAAG ENSP00000439156.2:n.877-271_877-270insGAAAGAAAG
NM_000095.2:c.976-271_976-270insGAAAGAAAG NP_000086.2:n.976-271_976-270insGAAAGAAAG
NM_000095.3:c.976-271_976-270insGAAAGAAAG MANE Select NP_000086.2:n.976-271_976-270insGAAAGAAAG
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