Canonical Allele Identifier: CA2607147
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs747643955
ExAC: 3:129249737 CCT / C
gnomAD v2: 3-129249737-CCT-C
gnomAD v4: 3-129530894-CCT-C
MyVariant Identifiers: chr3:g.129249738_129249739del (hg19) chr3:g.129530895_129530896del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530895_129530896del , CM000665.2:g.129530895_129530896del GRCh38
NC_000003.11:g.129249738_129249739del , CM000665.1:g.129249738_129249739del GRCh37
NC_000003.10:g.130732428_130732429del NCBI36
NG_009115.1:g.7257_7258del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.381_382del MANE Select ENSP00000296271.3:p.Leu128GlyfsTer13
ENST00000296271.3:c.381_382del ENSP00000296271.3:p.Leu128GlyfsTer13
NM_000539.3:c.381_382del MANE Select NP_000530.1:p.Leu128GlyfsTer13
Search 100 bp 5'
Search 100 bp 3'