Canonical Allele Identifier: CA129753

Gene: GPR179

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

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