Canonical Allele Identifier: CA917460511
Gene: GHR HGNC NCBI

Linked Data

dbSNP Id: rs1579660612

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42711535_42711536dup , CM000667.2:g.42711535_42711536dup GRCh38
NC_000005.9:g.42711637_42711638dup , CM000667.1:g.42711637_42711638dup GRCh37
NC_000005.8:g.42747394_42747395dup NCBI36
NG_011688.1:g.292612_292613dup
NG_011688.2:g.292612_292613dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230882.9:c.784+163_784+164dup MANE Select ENSP00000230882.4:n.784+163_784+164dup
ENST00000230882.8:c.784+163_784+164dup ENSP00000230882.4:n.784+163_784+164dup
ENST00000357703.6:c.718+163_718+164dup ENSP00000350335.3:n.718+163_718+164dup
ENST00000511135.5:c.*396+163_*396+164dup ENSP00000422333.1:n.*396+163_*396+164dup
ENST00000537449.5:c.784+163_784+164dup ENSP00000442206.2:n.784+163_784+164dup
ENST00000612382.4:c.784+163_784+164dup ENSP00000478332.1:n.784+163_784+164dup
ENST00000612626.4:c.784+163_784+164dup ENSP00000479846.1:n.784+163_784+164dup
ENST00000615111.4:c.784+163_784+164dup ENSP00000478291.1:n.784+163_784+164dup
ENST00000618088.4:c.784+163_784+164dup ENSP00000482373.1:n.784+163_784+164dup
ENST00000620156.4:c.805+163_805+164dup ENSP00000483403.1:n.805+163_805+164dup
ENST00000622294.2:c.784+163_784+164dup ENSP00000483926.1:n.784+163_784+164dup
NM_000163.4:c.784+163_784+164dup NP_000154.1:n.784+163_784+164dup
NM_001242399.2:c.805+163_805+164dup NP_001229328.1:n.805+163_805+164dup
NM_001242400.2:c.784+163_784+164dup NP_001229329.1:n.784+163_784+164dup
NM_001242401.3:c.784+163_784+164dup NP_001229330.1:n.784+163_784+164dup
NM_001242402.2:c.784+163_784+164dup NP_001229331.1:n.784+163_784+164dup
NM_001242403.2:c.784+163_784+164dup NP_001229332.1:n.784+163_784+164dup
NM_001242404.2:c.784+163_784+164dup NP_001229333.1:n.784+163_784+164dup
NM_001242405.2:c.784+163_784+164dup NP_001229334.1:n.784+163_784+164dup
NM_001242406.2:c.784+163_784+164dup NP_001229335.1:n.784+163_784+164dup
NM_001242460.1:c.718+163_718+164dup NP_001229389.1:n.718+163_718+164dup
NM_001242462.1:c.784+163_784+164dup NP_001229391.1:n.784+163_784+164dup
XM_011514031.1:c.739+163_739+164dup XP_011512333.1:n.739+163_739+164dup
NM_000163.5:c.784+163_784+164dup MANE Select NP_000154.1:n.784+163_784+164dup
NM_001242401.4:c.784+163_784+164dup NP_001229330.1:n.784+163_784+164dup
NM_001242403.3:c.784+163_784+164dup NP_001229332.1:n.784+163_784+164dup