Canonical Allele Identifier: CA2670820616
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67754188-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754193_67754194del , CM000666.2:g.67754193_67754194del GRCh38
NC_000004.11:g.68619911_68619912del , CM000666.1:g.68619911_68619912del GRCh37
NC_000004.10:g.68302506_68302507del NCBI36
NG_009293.1:g.6897_6898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.146_147del MANE Select ENSP00000226413.5:p.Ser49CysfsTer4
ENST00000226413.4:c.146_147del ENSP00000226413.4:p.Ser49CysfsTer4
ENST00000420975.2:c.146_147del ENSP00000397561.2:p.Ser49CysfsTer4
NM_000406.2:c.146_147del NP_000397.1:p.Ser49CysfsTer4
NM_001012763.1:c.146_147del NP_001012781.1:p.Ser49CysfsTer4
NM_000406.3:c.146_147del MANE Select NP_000397.1:p.Ser49CysfsTer4
NM_001012763.2:c.146_147del NP_001012781.1:p.Ser49CysfsTer4
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