Canonical Allele Identifier: CA559293431

Gene: GHR

Linked Data

• dbSNP Id: rs1276372163
• gnomAD v2: 5-42711306-AAG-A
• gnomAD v4: 5-42711204-AAG-A
• MyVariant Identifiers: chr5:g.42711307_42711308del (hg19) ; chr5:g.42711205_42711206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711206_42711207del , CM000667.2:g.42711206_42711207del	GRCh38
NC_000005.9:g.42711308_42711309del , CM000667.1:g.42711308_42711309del	GRCh37
NC_000005.8:g.42747065_42747066del	NCBI36
NG_011688.1:g.292283_292284del
NG_011688.2:g.292283_292284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.619-1_619del
ENST00000230882.8:c.619-1_619del
ENST00000357703.6:c.553-1_553del
ENST00000511135.5:c.*231-1_*231del
ENST00000537449.5:c.619-1_619del
ENST00000612382.4:c.619-1_619del
ENST00000612626.4:c.619-1_619del
ENST00000615111.4:c.619-1_619del
ENST00000618088.4:c.619-1_619del
ENST00000620156.4:c.640-1_640del
ENST00000622294.2:c.619-1_619del
NM_000163.4:c.619-1_619del
NM_001242399.2:c.640-1_640del
NM_001242400.2:c.619-1_619del
NM_001242401.3:c.619-1_619del
NM_001242402.2:c.619-1_619del
NM_001242403.2:c.619-1_619del
NM_001242404.2:c.619-1_619del
NM_001242405.2:c.619-1_619del
NM_001242406.2:c.619-1_619del
NM_001242460.1:c.553-1_553del
NM_001242462.1:c.619-1_619del
XM_011514031.1:c.574-1_574del
NM_000163.5:c.619-1_619del
NM_001242401.4:c.619-1_619del
NM_001242403.3:c.619-1_619del