Canonical Allele Identifier: CA2758363925

Gene: RHO

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530991_129530992insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA , CM000665.2:g.129530991_129530992insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA	GRCh38
NC_000003.11:g.129249834_129249835insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA , CM000665.1:g.129249834_129249835insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA	GRCh37
NC_000003.10:g.130732524_130732525insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA	NCBI36
NG_009115.1:g.7353_7354insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.477_478insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA MANE Select	ENSP00000296271.3:p.Thr160TrpfsTer?
ENST00000296271.3:c.477_478insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA	ENSP00000296271.3:p.Thr160TrpfsTer?
NM_000539.3:c.477_478insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA MANE Select	NP_000530.1:p.Thr160TrpfsTer?