Canonical Allele Identifier: CA2518660572

Gene: GHR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42699771_42699772insATATTTTTC , CM000667.2:g.42699771_42699772insATATTTTTC	GRCh38
NC_000005.9:g.42699873_42699874insATATTTTTC , CM000667.1:g.42699873_42699874insATATTTTTC	GRCh37
NC_000005.8:g.42735630_42735631insATATTTTTC	NCBI36
NG_011688.1:g.280848_280849insATATTTTTC
NG_011688.2:g.280848_280849insATATTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.440-53_440-52insATATTTTTC MANE Select	ENSP00000230882.4:n.440-53_440-52insATATTTTTC
ENST00000230882.8:c.440-53_440-52insATATTTTTC	ENSP00000230882.4:n.440-53_440-52insATATTTTTC
ENST00000357703.6:c.374-53_374-52insATATTTTTC	ENSP00000350335.3:n.374-53_374-52insATATTTTTC
ENST00000511135.5:c.*52-53_*52-52insATATTTTTC	ENSP00000422333.1:n.*52-53_*52-52insATATTTTTC
ENST00000537449.5:c.440-53_440-52insATATTTTTC	ENSP00000442206.2:n.440-53_440-52insATATTTTTC
ENST00000612382.4:c.440-53_440-52insATATTTTTC	ENSP00000478332.1:n.440-53_440-52insATATTTTTC
ENST00000612626.4:c.440-53_440-52insATATTTTTC	ENSP00000479846.1:n.440-53_440-52insATATTTTTC
ENST00000615111.4:c.440-53_440-52insATATTTTTC	ENSP00000478291.1:n.440-53_440-52insATATTTTTC
ENST00000618088.4:c.440-53_440-52insATATTTTTC	ENSP00000482373.1:n.440-53_440-52insATATTTTTC
ENST00000620156.4:c.461-53_461-52insATATTTTTC	ENSP00000483403.1:n.461-53_461-52insATATTTTTC
ENST00000622294.2:c.440-53_440-52insATATTTTTC	ENSP00000483926.1:n.440-53_440-52insATATTTTTC
NM_000163.4:c.440-53_440-52insATATTTTTC	NP_000154.1:n.440-53_440-52insATATTTTTC
NM_001242399.2:c.461-53_461-52insATATTTTTC	NP_001229328.1:n.461-53_461-52insATATTTTTC
NM_001242400.2:c.440-53_440-52insATATTTTTC	NP_001229329.1:n.440-53_440-52insATATTTTTC
NM_001242401.3:c.440-53_440-52insATATTTTTC	NP_001229330.1:n.440-53_440-52insATATTTTTC
NM_001242402.2:c.440-53_440-52insATATTTTTC	NP_001229331.1:n.440-53_440-52insATATTTTTC
NM_001242403.2:c.440-53_440-52insATATTTTTC	NP_001229332.1:n.440-53_440-52insATATTTTTC
NM_001242404.2:c.440-53_440-52insATATTTTTC	NP_001229333.1:n.440-53_440-52insATATTTTTC
NM_001242405.2:c.440-53_440-52insATATTTTTC	NP_001229334.1:n.440-53_440-52insATATTTTTC
NM_001242406.2:c.440-53_440-52insATATTTTTC	NP_001229335.1:n.440-53_440-52insATATTTTTC
NM_001242460.1:c.374-53_374-52insATATTTTTC	NP_001229389.1:n.374-53_374-52insATATTTTTC
NM_001242462.1:c.440-53_440-52insATATTTTTC	NP_001229391.1:n.440-53_440-52insATATTTTTC
XM_011514031.1:c.395-53_395-52insATATTTTTC	XP_011512333.1:n.395-53_395-52insATATTTTTC
NM_000163.5:c.440-53_440-52insATATTTTTC MANE Select	NP_000154.1:n.440-53_440-52insATATTTTTC
NM_001242401.4:c.440-53_440-52insATATTTTTC	NP_001229330.1:n.440-53_440-52insATATTTTTC
NM_001242403.3:c.440-53_440-52insATATTTTTC	NP_001229332.1:n.440-53_440-52insATATTTTTC