Canonical Allele Identifier: CA2668560144
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172447901-GGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447902_172447903del , CM000665.2:g.172447902_172447903del GRCh38
NC_000003.11:g.172165692_172165693del , CM000665.1:g.172165692_172165693del GRCh37
NC_000003.10:g.173648386_173648387del NCBI36
NG_021159.1:g.5554_5555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.511_512del MANE Select ENSP00000241256.2:p.Ala171LeufsTer?
ENST00000241256.2:c.511_512del ENSP00000241256.2:p.Ala171LeufsTer?
ENST00000427970.1:c.511_512del ENSP00000395344.1:p.Ala171LeufsTer?
NM_004122.2:c.511_512del NP_004113.1:p.Ala171LeufsTer?
NM_198407.2:c.511_512del MANE Select NP_940799.1:p.Ala171LeufsTer?
Search 100 bp 5'
Search 100 bp 3'