Canonical Allele Identifier: CA2673723657

Gene: GHR

Linked Data

• gnomAD v4: 5-42694997-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42694998del , CM000667.2:g.42694998del	GRCh38
NC_000005.9:g.42695100del , CM000667.1:g.42695100del	GRCh37
NC_000005.8:g.42730857del	NCBI36
NG_011688.1:g.276075del
NG_011688.2:g.276075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.348del MANE Select	ENSP00000230882.4:p.Ser117ArgfsTer13
ENST00000230882.8:c.348del	ENSP00000230882.4:p.Ser117ArgfsTer13
ENST00000357703.6:c.282del	ENSP00000350335.3:p.Ser95ArgfsTer13
ENST00000511135.5:c.218del	ENSP00000422333.1:p.His73LeufsTer15
ENST00000537449.5:c.348del	ENSP00000442206.2:p.Ser117ArgfsTer13
ENST00000612382.4:c.348del	ENSP00000478332.1:p.Ser117ArgfsTer13
ENST00000612626.4:c.348del	ENSP00000479846.1:p.Ser117ArgfsTer13
ENST00000615111.4:c.348del	ENSP00000478291.1:p.Ser117ArgfsTer13
ENST00000618088.4:c.348del	ENSP00000482373.1:p.Ser117ArgfsTer13
ENST00000620156.4:c.369del	ENSP00000483403.1:p.Ser124ArgfsTer13
ENST00000622294.2:c.348del	ENSP00000483926.1:p.Ser117ArgfsTer13
NM_000163.4:c.348del	NP_000154.1:p.Ser117ArgfsTer13
NM_001242399.2:c.369del	NP_001229328.1:p.Ser124ArgfsTer13
NM_001242400.2:c.348del	NP_001229329.1:p.Ser117ArgfsTer13
NM_001242401.3:c.348del	NP_001229330.1:p.Ser117ArgfsTer13
NM_001242402.2:c.348del	NP_001229331.1:p.Ser117ArgfsTer13
NM_001242403.2:c.348del	NP_001229332.1:p.Ser117ArgfsTer13
NM_001242404.2:c.348del	NP_001229333.1:p.Ser117ArgfsTer13
NM_001242405.2:c.348del	NP_001229334.1:p.Ser117ArgfsTer13
NM_001242406.2:c.348del	NP_001229335.1:p.Ser117ArgfsTer13
NM_001242460.1:c.282del	NP_001229389.1:p.Ser95ArgfsTer13
NM_001242462.1:c.348del	NP_001229391.1:p.Ser117ArgfsTer13
XM_011514031.1:c.303del	XP_011512333.1:p.Ser102ArgfsTer13
NM_000163.5:c.348del MANE Select	NP_000154.1:p.Ser117ArgfsTer13
NM_001242401.4:c.348del	NP_001229330.1:p.Ser117ArgfsTer13
NM_001242403.3:c.348del	NP_001229332.1:p.Ser117ArgfsTer13