Canonical Allele Identifier: CA2668560147
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172448058-AAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448061_172448062del , CM000665.2:g.172448061_172448062del GRCh38
NC_000003.11:g.172165851_172165852del , CM000665.1:g.172165851_172165852del GRCh37
NC_000003.10:g.173648545_173648546del NCBI36
NG_021159.1:g.5397_5398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.354_355del MANE Select ENSP00000241256.2:p.Phe119ProfsTer5
ENST00000241256.2:c.354_355del ENSP00000241256.2:p.Phe119ProfsTer5
ENST00000427970.1:c.354_355del ENSP00000395344.1:p.Phe119ProfsTer5
NM_004122.2:c.354_355del NP_004113.1:p.Phe119ProfsTer5
NM_198407.2:c.354_355del MANE Select NP_940799.1:p.Phe119ProfsTer5
Search 100 bp 5'
Search 100 bp 3'