Canonical Allele Identifier: CA2577961749
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129530888-TGTGGTCCTTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530897_129530906del , CM000665.2:g.129530897_129530906del GRCh38
NC_000003.11:g.129249740_129249749del , CM000665.1:g.129249740_129249749del GRCh37
NC_000003.10:g.130732430_130732439del NCBI36
NG_009115.1:g.7259_7268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.383_392del MANE Select ENSP00000296271.3:p.Leu128TrpfsTer13
ENST00000296271.3:c.383_392del ENSP00000296271.3:p.Leu128TrpfsTer13
NM_000539.3:c.383_392del MANE Select NP_000530.1:p.Leu128TrpfsTer13
Search 100 bp 5'
Search 100 bp 3'