Canonical Allele Identifier: CA306257097
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs753559789
gnomAD v2: 19-18898689-TTCTTTCTTTC-T
gnomAD v3: 19-18787880-TTCTTTCTTTC-T
gnomAD v4: 19-18787880-TTCTTTCTTTC-T
MyVariant Identifiers: chr19:g.18898690_18898699del (hg19) chr19:g.18787881_18787890del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787882_18787891del , CM000681.2:g.18787882_18787891del GRCh38
NC_000019.9:g.18898691_18898700del , CM000681.1:g.18898691_18898700del GRCh37
NC_000019.8:g.18759691_18759700del NCBI36
NG_007070.1:g.8416_8425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-240_976-231del MANE Select ENSP00000222271.2:n.976-240_976-231del
ENST00000222271.6:c.976-240_976-231del ENSP00000222271.2:n.976-240_976-231del
ENST00000425807.1:c.817-240_817-231del ENSP00000403792.1:n.817-240_817-231del
ENST00000542601.6:c.877-240_877-231del ENSP00000439156.2:n.877-240_877-231del
NM_000095.2:c.976-240_976-231del NP_000086.2:n.976-240_976-231del
NM_000095.3:c.976-240_976-231del MANE Select NP_000086.2:n.976-240_976-231del
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