Canonical Allele Identifier: CA1420511719
Gene: GHSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447992_172448073delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA , CM000665.2:g.172447992_172448073delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA GRCh38
NC_000003.11:g.172165782_172165863delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA , CM000665.1:g.172165782_172165863delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA GRCh37
NC_000003.10:g.173648476_173648557delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA NCBI36
NG_021159.1:g.5384_5465delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG MANE Select ENSP00000241256.2:p.Leu114=
ENST00000241256.2:c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG ENSP00000241256.2:p.Leu114=
ENST00000427970.1:c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG ENSP00000395344.1:p.Leu114=
NM_004122.2:c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG NP_004113.1:p.Leu114=
NM_198407.2:c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG MANE Select NP_940799.1:p.Leu114=