Canonical Allele Identifier: CA2673723850

Gene: GHR

Linked Data

• gnomAD v4: 5-42699903-GAGATGGGAAGCACCACGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42699905_42699922del , CM000667.2:g.42699905_42699922del	GRCh38
NC_000005.9:g.42700007_42700024del , CM000667.1:g.42700007_42700024del	GRCh37
NC_000005.8:g.42735764_42735781del	NCBI36
NG_011688.1:g.280982_280999del
NG_011688.2:g.280982_280999del

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.521_538del MANE Select	ENSP00000230882.4:p.Arg174_Arg179del
ENST00000230882.8:c.521_538del	ENSP00000230882.4:p.Arg174_Arg179del
ENST00000357703.6:c.455_472del	ENSP00000350335.3:p.Arg152_Arg157del
ENST00000511135.5:c.*133_*150del	ENSP00000422333.1:n.*133_*150del
ENST00000537449.5:c.521_538del	ENSP00000442206.2:p.Arg174_Arg179del
ENST00000612382.4:c.521_538del	ENSP00000478332.1:p.Arg174_Arg179del
ENST00000612626.4:c.521_538del	ENSP00000479846.1:p.Arg174_Arg179del
ENST00000615111.4:c.521_538del	ENSP00000478291.1:p.Arg174_Arg179del
ENST00000618088.4:c.521_538del	ENSP00000482373.1:p.Arg174_Arg179del
ENST00000620156.4:c.542_559del	ENSP00000483403.1:p.Arg181_Arg186del
ENST00000622294.2:c.521_538del	ENSP00000483926.1:p.Arg174_Arg179del
NM_000163.4:c.521_538del	NP_000154.1:p.Arg174_Arg179del
NM_001242399.2:c.542_559del	NP_001229328.1:p.Arg181_Arg186del
NM_001242400.2:c.521_538del	NP_001229329.1:p.Arg174_Arg179del
NM_001242401.3:c.521_538del	NP_001229330.1:p.Arg174_Arg179del
NM_001242402.2:c.521_538del	NP_001229331.1:p.Arg174_Arg179del
NM_001242403.2:c.521_538del	NP_001229332.1:p.Arg174_Arg179del
NM_001242404.2:c.521_538del	NP_001229333.1:p.Arg174_Arg179del
NM_001242405.2:c.521_538del	NP_001229334.1:p.Arg174_Arg179del
NM_001242406.2:c.521_538del	NP_001229335.1:p.Arg174_Arg179del
NM_001242460.1:c.455_472del	NP_001229389.1:p.Arg152_Arg157del
NM_001242462.1:c.521_538del	NP_001229391.1:p.Arg174_Arg179del
XM_011514031.1:c.476_493del	XP_011512333.1:p.Arg159_Arg164del
NM_000163.5:c.521_538del MANE Select	NP_000154.1:p.Arg174_Arg179del
NM_001242401.4:c.521_538del	NP_001229330.1:p.Arg174_Arg179del
NM_001242403.3:c.521_538del	NP_001229332.1:p.Arg174_Arg179del