Canonical Allele Identifier: CA783973395
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1296868603
gnomAD v3: 19-18787872-TTCTTTCTTTCTTTCTTTCTTTCTTTC-T
gnomAD v4: 19-18787872-TTCTTTCTTTCTTTCTTTCTTTCTTTC-T
MyVariant Identifiers: chr19:g.18898682_18898707del (hg19) chr19:g.18787873_18787898del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787874_18787899del , CM000681.2:g.18787874_18787899del GRCh38
NC_000019.9:g.18898683_18898708del , CM000681.1:g.18898683_18898708del GRCh37
NC_000019.8:g.18759683_18759708del NCBI36
NG_007070.1:g.8408_8433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-248_976-223del MANE Select ENSP00000222271.2:n.976-248_976-223del
ENST00000222271.6:c.976-248_976-223del ENSP00000222271.2:n.976-248_976-223del
ENST00000425807.1:c.817-248_817-223del ENSP00000403792.1:n.817-248_817-223del
ENST00000542601.6:c.877-248_877-223del ENSP00000439156.2:n.877-248_877-223del
NM_000095.2:c.976-248_976-223del NP_000086.2:n.976-248_976-223del
NM_000095.3:c.976-248_976-223del MANE Select NP_000086.2:n.976-248_976-223del
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