Canonical Allele Identifier: CA435643704
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs766932095
gnomAD v2: 3-129249375-C-CAA
gnomAD v3: 3-129530532-C-CAA
gnomAD v4: 3-129530532-C-CAA
MyVariant Identifiers: chr3:g.129249378_129249379delinsAACA (hg19) chr3:g.129249375_129249376insAA (hg19) chr3:g.129530535_129530536delinsAACA (hg38) chr3:g.129530532_129530533insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530533_129530534dup , CM000665.2:g.129530533_129530534dup GRCh38
NC_000003.11:g.129249376_129249377dup , CM000665.1:g.129249376_129249377dup GRCh37
NC_000003.10:g.130732066_130732067dup NCBI36
NG_009115.1:g.6895_6896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-343_362-342dup MANE Select ENSP00000296271.3:n.362-343_362-342dup
ENST00000296271.3:c.362-343_362-342dup ENSP00000296271.3:n.362-343_362-342dup
NM_000539.3:c.362-343_362-342dup MANE Select NP_000530.1:n.362-343_362-342dup
Search 100 bp 5'
Search 100 bp 3'