Canonical Allele Identifier: CA994237942
Gene: COMP HGNC NCBI

Linked Data

gnomAD v3: 19-18787897-TCTTTCTTTCTTTC-T
gnomAD v4: 19-18787897-TCTTTCTTTCTTTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787898_18787910del , CM000681.2:g.18787898_18787910del GRCh38
NC_000019.9:g.18898707_18898719del , CM000681.1:g.18898707_18898719del GRCh37
NC_000019.8:g.18759707_18759719del NCBI36
NG_007070.1:g.8396_8408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-260_976-248del MANE Select ENSP00000222271.2:n.976-260_976-248del
ENST00000222271.6:c.976-260_976-248del ENSP00000222271.2:n.976-260_976-248del
ENST00000425807.1:c.817-260_817-248del ENSP00000403792.1:n.817-260_817-248del
ENST00000542601.6:c.877-260_877-248del ENSP00000439156.2:n.877-260_877-248del
NM_000095.2:c.976-260_976-248del NP_000086.2:n.976-260_976-248del
NM_000095.3:c.976-260_976-248del MANE Select NP_000086.2:n.976-260_976-248del
Search 100 bp 5'
Search 100 bp 3'