Canonical Allele Identifier: CA559293443

Gene: GHR

Linked Data

• dbSNP Id: rs1561249162
• gnomAD v2: 5-42711428-GCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT-G
• gnomAD v4: 5-42711326-GCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT-G
• MyVariant Identifiers: chr5:g.42711429_42711485del (hg19) ; chr5:g.42711327_42711383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711327_42711383del , CM000667.2:g.42711327_42711383del	GRCh38
NC_000005.9:g.42711429_42711485del , CM000667.1:g.42711429_42711485del	GRCh37
NC_000005.8:g.42747186_42747242del	NCBI36
NG_011688.1:g.292404_292460del
NG_011688.2:g.292404_292460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.739_784+11del
ENST00000230882.8:c.739_784+11del
ENST00000357703.6:c.673_718+11del
ENST00000511135.5:c.*351_*396+11del
ENST00000537449.5:c.739_784+11del
ENST00000612382.4:c.739_784+11del
ENST00000612626.4:c.739_784+11del
ENST00000615111.4:c.739_784+11del
ENST00000618088.4:c.739_784+11del
ENST00000620156.4:c.760_805+11del
ENST00000622294.2:c.739_784+11del
NM_000163.4:c.739_784+11del
NM_001242399.2:c.760_805+11del
NM_001242400.2:c.739_784+11del
NM_001242401.3:c.739_784+11del
NM_001242402.2:c.739_784+11del
NM_001242403.2:c.739_784+11del
NM_001242404.2:c.739_784+11del
NM_001242405.2:c.739_784+11del
NM_001242406.2:c.739_784+11del
NM_001242460.1:c.673_718+11del
NM_001242462.1:c.739_784+11del
XM_011514031.1:c.694_739+11del
NM_000163.5:c.739_784+11del
NM_001242401.4:c.739_784+11del
NM_001242403.3:c.739_784+11del