Canonical Allele Identifier: CA2668560146
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172447971-GGGAAGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447973_172447979del , CM000665.2:g.172447973_172447979del GRCh38
NC_000003.11:g.172165763_172165769del , CM000665.1:g.172165763_172165769del GRCh37
NC_000003.10:g.173648457_173648463del NCBI36
NG_021159.1:g.5479_5485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.436_442del MANE Select ENSP00000241256.2:p.Cys146HisfsTer13
ENST00000241256.2:c.436_442del ENSP00000241256.2:p.Cys146HisfsTer13
ENST00000427970.1:c.436_442del ENSP00000395344.1:p.Cys146HisfsTer13
NM_004122.2:c.436_442del NP_004113.1:p.Cys146HisfsTer13
NM_198407.2:c.436_442del MANE Select NP_940799.1:p.Cys146HisfsTer13
Search 100 bp 5'
Search 100 bp 3'