Canonical Allele Identifier: CA1139655813
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 984776
ClinVar RCV Id: RCV001265176
dbSNP Id: rs2084757679
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528937_129528948del , CM000665.2:g.129528937_129528948del GRCh38
NC_000003.11:g.129247780_129247791del , CM000665.1:g.129247780_129247791del GRCh37
NC_000003.10:g.130730470_130730481del NCBI36
NG_009115.1:g.5299_5310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.204_215del MANE Select ENSP00000296271.3:p.Arg69_Leu72del
ENST00000296271.3:c.204_215del ENSP00000296271.3:p.Arg69_Leu72del
NM_000539.3:c.204_215del MANE Select NP_000530.1:p.Arg69_Leu72del
Search 100 bp 5'
Search 100 bp 3'