Canonical Allele Identifier: CA129753
Gene: GPR179 HGNC NCBI

Linked Data

ClinVar Variation Id: 31204
ClinVar RCV Id: RCV000024203 RCV000309713 RCV000505034 RCV001073427
dbSNP Id: rs770066665
gnomAD v3: 17-38337639-AG-A
gnomAD v4: 17-38337639-AG-A
MyVariant Identifiers: chr17:g.38337641del (hg38) chr17:g.38337640del (hg38)
PubMed: PMID:22325361 PMID:22325362 PMID:25307992 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.38337643del , CM000679.2:g.38337643del GRCh38
NC_000017.9:g.33747052del NCBI36
NG_032655.2:g.11171del

Transcript Alleles

HGVS Amino-acid change
ENST00000616987.5:c.984del MANE Select ENSP00000483469.2:p.Ser329LeufsTer4
ENST00000616987.4:c.984del ENSP00000483469.1:p.Ser329LeufsTer4
ENST00000621958.1:c.987del ENSP00000480024.1:p.Ser330LeufsTer4
NM_001004334.3:c.984del NP_001004334.3:p.Ser329LeufsTer4
NM_001004334.4:c.984del MANE Select NP_001004334.3:p.Ser329LeufsTer4
Search 100 bp 5'
Search 100 bp 3'