Canonical Allele Identifier: CA2938843
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs768368606
ExAC: 4:68606291 G / GT
gnomAD v2: 4-68606291-G-GT
gnomAD v3: 4-67740573-G-GT
gnomAD v4: 4-67740573-G-GT
MyVariant Identifiers: chr4:g.68606291_68606292insT (hg19) chr4:g.67740573_67740574insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740576dup , CM000666.2:g.67740576dup GRCh38
NC_000004.11:g.68606294dup , CM000666.1:g.68606294dup GRCh37
NC_000004.10:g.68288889dup NCBI36
NG_009293.1:g.20513dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.893dup MANE Select ENSP00000226413.5:p.Asn298LysfsTer22
ENST00000226413.4:c.893dup ENSP00000226413.4:p.Asn298LysfsTer22
ENST00000420975.2:c.765dup ENSP00000397561.2:n.765dup
NM_000406.2:c.893dup NP_000397.1:p.Asn298LysfsTer22
NM_001012763.1:c.*15dup NP_001012781.1:n.*15dup
NM_000406.3:c.893dup MANE Select NP_000397.1:p.Asn298LysfsTer22
NM_001012763.2:c.*15dup NP_001012781.1:n.*15dup
Search 100 bp 5'
Search 100 bp 3'