Canonical Allele Identifier: CA2573052349
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1338680
ClinVar RCV Id: RCV001818051
dbSNP Id: rs2109988131

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754182del , CM000666.2:g.67754182del GRCh38
NC_000004.11:g.68619900del , CM000666.1:g.68619900del GRCh37
NC_000004.10:g.68302495del NCBI36
NG_009293.1:g.6907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.156del MANE Select ENSP00000226413.5:p.Phe52LeufsTer7
ENST00000226413.4:c.156del ENSP00000226413.4:p.Phe52LeufsTer7
ENST00000420975.2:c.156del ENSP00000397561.2:p.Phe52LeufsTer7
NM_000406.2:c.156del NP_000397.1:p.Phe52LeufsTer7
NM_001012763.1:c.156del NP_001012781.1:p.Phe52LeufsTer7
NM_000406.3:c.156del MANE Select NP_000397.1:p.Phe52LeufsTer7
NM_001012763.2:c.156del NP_001012781.1:p.Phe52LeufsTer7