Canonical Allele Identifier: CA9316523
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs757625411
ExAC: 19:18898251 CT / C
gnomAD v2: 19-18898251-CT-C
gnomAD v3: 19-18787442-CT-C
gnomAD v4: 19-18787442-CT-C
MyVariant Identifiers: chr19:g.18898252del (hg19) chr19:g.18787444del (hg38) chr19:g.18787443del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787444del , CM000681.2:g.18787444del GRCh38
NC_000019.9:g.18898253del , CM000681.1:g.18898253del GRCh37
NC_000019.8:g.18759253del NCBI36
NG_007070.1:g.8863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+48del MANE Select ENSP00000222271.2:n.1135+48del
ENST00000222271.6:c.1135+48del ENSP00000222271.2:n.1135+48del
ENST00000425807.1:c.976+48del ENSP00000403792.1:n.976+48del
ENST00000542601.6:c.1036+48del ENSP00000439156.2:n.1036+48del
NM_000095.2:c.1135+48del NP_000086.2:n.1135+48del
NM_000095.3:c.1135+48del MANE Select NP_000086.2:n.1135+48del
Search 100 bp 5'
Search 100 bp 3'