Canonical Allele Identifier: CA2706498
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs766399905
ExAC: 3:172165941 GAGA / G
gnomAD v2: 3-172165941-GAGA-G
MyVariant Identifiers: chr3:g.172165942_172165944del (hg19) chr3:g.172448153_172448155del (hg38) chr3:g.172448152_172448154del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448154_172448156del , CM000665.2:g.172448154_172448156del GRCh38
NC_000003.11:g.172165944_172165946del , CM000665.1:g.172165944_172165946del GRCh37
NC_000003.10:g.173648638_173648640del NCBI36
NG_021159.1:g.5303_5305del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.260_262del MANE Select ENSP00000241256.2:p.Phe87del
ENST00000241256.2:c.260_262del ENSP00000241256.2:p.Phe87del
ENST00000427970.1:c.260_262del ENSP00000395344.1:p.Phe87del
NM_004122.2:c.260_262del NP_004113.1:p.Phe87del
NM_198407.2:c.260_262del MANE Select NP_940799.1:p.Phe87del
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