Canonical Allele Identifier: CA8325251
Gene: C1QBP HGNC NCBI

Linked Data

ClinVar Variation Id: 441246
ClinVar RCV Id: RCV000509581 RCV002272270
dbSNP Id: rs755568057
ExAC: 17:5337000 GATA / G
gnomAD v2: 17-5337000-GATA-G
gnomAD v3: 17-5433680-GATA-G
gnomAD v4: 17-5433680-GATA-G
MyVariant Identifiers: chr17:g.5337001_5337003del (hg19) chr17:g.5433681_5433683del (hg38)
PubMed: PMID:28942965
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5433683_5433685del , CM000679.2:g.5433683_5433685del GRCh38
NC_000017.10:g.5337003_5337005del , CM000679.1:g.5337003_5337005del GRCh37
NC_000017.9:g.5277727_5277729del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225698.8:c.562_564del MANE Select ENSP00000225698.4:p.Tyr188del
ENST00000570805.1:c.250_252del ENSP00000460638.1:p.Tyr84del
ENST00000573204.1:n.428_430del
ENST00000573421.1:n.171_173del
ENST00000574444.5:c.250_252del ENSP00000460308.1:p.Tyr84del
NM_001212.3:c.562_564del NP_001203.1:p.Tyr188del
NM_001212.4:c.562_564del MANE Select NP_001203.1:p.Tyr188del
Search 100 bp 5'
Search 100 bp 3'