Canonical Allele Identifier: CA632375769
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1197075313
gnomAD v2: 19-18898669-TTTTCTC-T
gnomAD v3: 19-18787860-TTTTCTC-T
gnomAD v4: 19-18787860-TTTTCTC-T
MyVariant Identifiers: chr19:g.18898670_18898675del (hg19) chr19:g.18898675_18898699delinsTTCTTTCTTTCTTTCTTTC (hg19) chr19:g.18787861_18787866del (hg38) chr19:g.18787866_18787890delinsTTCTTTCTTTCTTTCTTTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787866_18787871del , CM000681.2:g.18787866_18787871del GRCh38
NC_000019.9:g.18898675_18898680del , CM000681.1:g.18898675_18898680del GRCh37
NC_000019.8:g.18759675_18759680del NCBI36
NG_007070.1:g.8440_8445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-216_976-211del MANE Select ENSP00000222271.2:n.976-216_976-211del
ENST00000222271.6:c.976-216_976-211del ENSP00000222271.2:n.976-216_976-211del
ENST00000425807.1:c.817-216_817-211del ENSP00000403792.1:n.817-216_817-211del
ENST00000542601.6:c.877-216_877-211del ENSP00000439156.2:n.877-216_877-211del
NM_000095.2:c.976-216_976-211del NP_000086.2:n.976-216_976-211del
NM_000095.3:c.976-216_976-211del MANE Select NP_000086.2:n.976-216_976-211del
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