Canonical Allele Identifier: CA2577960385

Gene: GHSR

Linked Data

• gnomAD v4: 3-172448152-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448153del , CM000665.2:g.172448153del	GRCh38
NC_000003.11:g.172165943del , CM000665.1:g.172165943del	GRCh37
NC_000003.10:g.173648637del	NCBI36
NG_021159.1:g.5304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.261del MANE Select	ENSP00000241256.2:p.Ser88ProfsTer?
ENST00000241256.2:c.261del	ENSP00000241256.2:p.Ser88ProfsTer?
ENST00000427970.1:c.261del	ENSP00000395344.1:p.Ser88ProfsTer?
NM_004122.2:c.261del	NP_004113.1:p.Ser88ProfsTer?
NM_198407.2:c.261del MANE Select	NP_940799.1:p.Ser88ProfsTer?