Canonical Allele Identifier: CA306257134
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs879447656
gnomAD v2: 19-18898724-T-TTTCC
gnomAD v3: 19-18787915-T-TTTCC
gnomAD v4: 19-18787915-T-TTTCC
MyVariant Identifiers: chr19:g.18898724_18898725insTTCC (hg19) chr19:g.18787915_18787916insTTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787917_18787918insCCTT , CM000681.2:g.18787917_18787918insCCTT GRCh38
NC_000019.9:g.18898726_18898727insCCTT , CM000681.1:g.18898726_18898727insCCTT GRCh37
NC_000019.8:g.18759726_18759727insCCTT NCBI36
NG_007070.1:g.8390_8391insGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-266_976-265insGGAA MANE Select ENSP00000222271.2:n.976-266_976-265insGGAA
ENST00000222271.6:c.976-266_976-265insGGAA ENSP00000222271.2:n.976-266_976-265insGGAA
ENST00000425807.1:c.817-266_817-265insGGAA ENSP00000403792.1:n.817-266_817-265insGGAA
ENST00000542601.6:c.877-266_877-265insGGAA ENSP00000439156.2:n.877-266_877-265insGGAA
NM_000095.2:c.976-266_976-265insGGAA NP_000086.2:n.976-266_976-265insGGAA
NM_000095.3:c.976-266_976-265insGGAA MANE Select NP_000086.2:n.976-266_976-265insGGAA
Search 100 bp 5'
Search 100 bp 3'