Canonical Allele Identifier: CA2573136823
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1683614
ClinVar RCV Id: RCV002244135
dbSNP Id: rs2108426663
gnomAD v4: 3-172448338-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448343dup , CM000665.2:g.172448343dup GRCh38
NC_000003.11:g.172166133dup , CM000665.1:g.172166133dup GRCh37
NC_000003.10:g.173648827dup NCBI36
NG_021159.1:g.5118dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.75dup MANE Select ENSP00000241256.2:p.Gly26ArgfsTer?
ENST00000241256.2:c.75dup ENSP00000241256.2:p.Gly26ArgfsTer?
ENST00000427970.1:c.75dup ENSP00000395344.1:p.Gly26ArgfsTer?
NM_004122.2:c.75dup NP_004113.1:p.Gly26ArgfsTer?
NM_198407.2:c.75dup MANE Select NP_940799.1:p.Gly26ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'