Canonical Allele Identifier: CA548333798
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1560129631
gnomAD v2: 3-172165782-CGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA-C
gnomAD v4: 3-172447992-CGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA-C
MyVariant Identifiers: chr3:g.172165783_172165863del (hg19) chr3:g.172447993_172448073del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447994_172448074del , CM000665.2:g.172447994_172448074del GRCh38
NC_000003.11:g.172165784_172165864del , CM000665.1:g.172165784_172165864del GRCh37
NC_000003.10:g.173648478_173648558del NCBI36
NG_021159.1:g.5384_5464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.341_421del MANE Select ENSP00000241256.2:p.Leu114_Glu140del
ENST00000241256.2:c.341_421del ENSP00000241256.2:p.Leu114_Glu140del
ENST00000427970.1:c.341_421del ENSP00000395344.1:p.Leu114_Glu140del
NM_004122.2:c.341_421del NP_004113.1:p.Leu114_Glu140del
NM_198407.2:c.341_421del MANE Select NP_940799.1:p.Leu114_Glu140del
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