Canonical Allele Identifier: CA645518038
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1731642141
COSMIC: COSM1430601
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740672_67740673del , CM000666.2:g.67740672_67740673del GRCh38
NC_000004.11:g.68606390_68606391del , CM000666.1:g.68606390_68606391del GRCh37
NC_000004.10:g.68288985_68288986del NCBI36
NG_009293.1:g.20416_20417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.796_797del MANE Select ENSP00000226413.5:p.Leu266LysfsTer27
ENST00000226413.4:c.796_797del ENSP00000226413.4:p.Leu266LysfsTer27
ENST00000420975.2:c.668_669del ENSP00000397561.2:p.Ser223Ter
NM_000406.2:c.796_797del NP_000397.1:p.Leu266LysfsTer27
NM_001012763.1:c.668_669del NP_001012781.1:p.Ser223Ter
NM_000406.3:c.796_797del MANE Select NP_000397.1:p.Leu266LysfsTer27
NM_001012763.2:c.668_669del NP_001012781.1:p.Ser223Ter
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