Canonical Allele Identifier: CA632375787
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568555763
gnomAD v2: 19-18898676-TTTCTTTCTTTC-T
gnomAD v3: 19-18787867-TTTCTTTCTTTC-T
gnomAD v4: 19-18787867-TTTCTTTCTTTC-T
MyVariant Identifiers: chr19:g.18898679_18898699delinsTCTTTCTTTC (hg19) chr19:g.18787870_18787890delinsTCTTTCTTTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787870_18787880del , CM000681.2:g.18787870_18787880del GRCh38
NC_000019.9:g.18898679_18898689del , CM000681.1:g.18898679_18898689del GRCh37
NC_000019.8:g.18759679_18759689del NCBI36
NG_007070.1:g.8428_8438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-228_976-218del MANE Select ENSP00000222271.2:n.976-228_976-218del
ENST00000222271.6:c.976-228_976-218del ENSP00000222271.2:n.976-228_976-218del
ENST00000425807.1:c.817-228_817-218del ENSP00000403792.1:n.817-228_817-218del
ENST00000542601.6:c.877-228_877-218del ENSP00000439156.2:n.877-228_877-218del
NM_000095.2:c.976-228_976-218del NP_000086.2:n.976-228_976-218del
NM_000095.3:c.976-228_976-218del MANE Select NP_000086.2:n.976-228_976-218del
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