Canonical Allele Identifier: CA1053435057
Gene: RHO HGNC NCBI

Linked Data

gnomAD v3: 3-129530506-AACACACACACACACACACACACACACAACACAC-A
gnomAD v4: 3-129530506-AACACACACACACACACACACACACACAACACAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530534_129530566del , CM000665.2:g.129530534_129530566del GRCh38
NC_000003.11:g.129249377_129249409del , CM000665.1:g.129249377_129249409del GRCh37
NC_000003.10:g.130732067_130732099del NCBI36
NG_009115.1:g.6896_6928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-342_362-310del MANE Select ENSP00000296271.3:n.362-342_362-310del
ENST00000296271.3:c.362-342_362-310del ENSP00000296271.3:n.362-342_362-310del
NM_000539.3:c.362-342_362-310del MANE Select NP_000530.1:n.362-342_362-310del
Search 100 bp 5'
Search 100 bp 3'