Canonical Allele Identifier: CA2668559978
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172447355-GGTAAGAAAGACACTGACAAAGTAAAGGGGGAGGAGAGAGAGAGACA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447357_172447402del , CM000665.2:g.172447357_172447402del GRCh38
NC_000003.11:g.172165147_172165192del , CM000665.1:g.172165147_172165192del GRCh37
NC_000003.10:g.173647841_173647886del NCBI36
NG_021159.1:g.6056_6101del

Transcript Alleles

HGVS Amino-acid change
ENST00000241256.3:c.796+217_796+262del MANE Select ENSP00000241256.2:n.796+217_796+262del
ENST00000241256.2:c.796+217_796+262del ENSP00000241256.2:n.796+217_796+262del
NM_198407.2:c.796+217_796+262del MANE Select NP_940799.1:n.796+217_796+262del
Search 100 bp 5'
Search 100 bp 3'