Canonical Allele Identifier: CA2668560149
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172448120-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448121del , CM000665.2:g.172448121del GRCh38
NC_000003.11:g.172165911del , CM000665.1:g.172165911del GRCh37
NC_000003.10:g.173648605del NCBI36
NG_021159.1:g.5336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.293del MANE Select ENSP00000241256.2:p.Leu98ArgfsTer?
ENST00000241256.2:c.293del ENSP00000241256.2:p.Leu98ArgfsTer?
ENST00000427970.1:c.293del ENSP00000395344.1:p.Leu98ArgfsTer?
NM_004122.2:c.293del NP_004113.1:p.Leu98ArgfsTer?
NM_198407.2:c.293del MANE Select NP_940799.1:p.Leu98ArgfsTer?
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Search 100 bp 3'