Canonical Allele Identifier: CA1053435776
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084772209
gnomAD v3: 3-129530567-CAA-C
gnomAD v4: 3-129530567-CAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530570_129530571del , CM000665.2:g.129530570_129530571del GRCh38
NC_000003.11:g.129249413_129249414del , CM000665.1:g.129249413_129249414del GRCh37
NC_000003.10:g.130732103_130732104del NCBI36
NG_009115.1:g.6932_6933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-306_362-305del MANE Select ENSP00000296271.3:n.362-306_362-305del
ENST00000296271.3:c.362-306_362-305del ENSP00000296271.3:n.362-306_362-305del
NM_000539.3:c.362-306_362-305del MANE Select NP_000530.1:n.362-306_362-305del
Search 100 bp 5'
Search 100 bp 3'