Canonical Allele Identifier: CA306257061
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1207405
ClinVar RCV Id: RCV001575383
dbSNP Id: rs760564555
gnomAD v2: 19-18898681-TTCTTTCTTTCTTTCTTTCTTTC-T
gnomAD v3: 19-18787872-TTCTTTCTTTCTTTCTTTCTTTC-T
gnomAD v4: 19-18787872-TTCTTTCTTTCTTTCTTTCTTTC-T
MyVariant Identifiers: chr19:g.18898682_18898703del (hg19) chr19:g.18787873_18787894del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787874_18787895del , CM000681.2:g.18787874_18787895del GRCh38
NC_000019.9:g.18898683_18898704del , CM000681.1:g.18898683_18898704del GRCh37
NC_000019.8:g.18759683_18759704del NCBI36
NG_007070.1:g.8412_8433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-244_976-223del MANE Select ENSP00000222271.2:n.976-244_976-223del
ENST00000222271.6:c.976-244_976-223del ENSP00000222271.2:n.976-244_976-223del
ENST00000425807.1:c.817-244_817-223del ENSP00000403792.1:n.817-244_817-223del
ENST00000542601.6:c.877-244_877-223del ENSP00000439156.2:n.877-244_877-223del
NM_000095.2:c.976-244_976-223del NP_000086.2:n.976-244_976-223del
NM_000095.3:c.976-244_976-223del MANE Select NP_000086.2:n.976-244_976-223del
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