Canonical Allele Identifier: CA1420511718
Gene: GHSR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447991_172447998delinsGCGCTCGA , CM000665.2:g.172447991_172447998delinsGCGCTCGA GRCh38
NC_000003.11:g.172165781_172165788delinsGCGCTCGA , CM000665.1:g.172165781_172165788delinsGCGCTCGA GRCh37
NC_000003.10:g.173648475_173648482delinsGCGCTCGA NCBI36
NG_021159.1:g.5459_5466delinsTCGAGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.416_423delinsTCGAGCGC MANE Select ENSP00000241256.2:p.Val139=
ENST00000241256.2:c.416_423delinsTCGAGCGC ENSP00000241256.2:p.Val139=
ENST00000427970.1:c.416_423delinsTCGAGCGC ENSP00000395344.1:p.Val139=
NM_004122.2:c.416_423delinsTCGAGCGC NP_004113.1:p.Val139=
NM_198407.2:c.416_423delinsTCGAGCGC MANE Select NP_940799.1:p.Val139=
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