Canonical Allele Identifier: CA2687301830
Gene: RP1 HGNC NCBI

Linked Data

gnomAD v4: 8-54626071-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626073del , CM000670.2:g.54626073del GRCh38
NC_000008.10:g.55538633del , CM000670.1:g.55538633del GRCh37
NC_000008.9:g.55701186del NCBI36
NG_009840.1:g.15007del
NG_009840.2:g.15007del

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.2191del MANE Select ENSP00000220676.1:p.Leu731SerfsTer7
ENST00000636932.1:c.787+3785del ENSP00000489857.1:n.787+3785del
ENST00000637698.1:c.787+3785del ENSP00000490104.1:n.787+3785del
ENST00000220676.1:c.2191del ENSP00000220676.1:p.Leu731SerfsTer7
NM_006269.1:c.2191del NP_006260.1:p.Leu731SerfsTer7
XM_017013721.1:c.2212del XP_016869210.1:p.Leu738SerfsTer7
XM_017013722.1:c.2191del XP_016869211.1:p.Leu731SerfsTer7
NM_001375654.1:c.787+3785del NP_001362583.1:n.787+3785del
NM_006269.2:c.2191del MANE Select NP_006260.1:p.Leu731SerfsTer7
Search 100 bp 5'
Search 100 bp 3'