Canonical Allele Identifier: CA2687301836
Gene: RP1 HGNC NCBI

Linked Data

gnomAD v4: 8-54626356-TCCTTGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626358_54626364del , CM000670.2:g.54626358_54626364del GRCh38
NC_000008.10:g.55538918_55538924del , CM000670.1:g.55538918_55538924del GRCh37
NC_000008.9:g.55701471_55701477del NCBI36
NG_009840.1:g.15292_15298del
NG_009840.2:g.15292_15298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.2476_2482del MANE Select ENSP00000220676.1:p.Leu826LysfsTer20
ENST00000636932.1:c.787+4070_787+4076del ENSP00000489857.1:n.787+4070_787+4076del
ENST00000637698.1:c.787+4070_787+4076del ENSP00000490104.1:n.787+4070_787+4076del
ENST00000220676.1:c.2476_2482del ENSP00000220676.1:p.Leu826LysfsTer20
NM_006269.1:c.2476_2482del NP_006260.1:p.Leu826LysfsTer20
XM_017013721.1:c.2497_2503del XP_016869210.1:p.Leu833LysfsTer20
XM_017013722.1:c.2476_2482del XP_016869211.1:p.Leu826LysfsTer20
NM_001375654.1:c.787+4070_787+4076del NP_001362583.1:n.787+4070_787+4076del
NM_006269.2:c.2476_2482del MANE Select NP_006260.1:p.Leu826LysfsTer20
Search 100 bp 5'
Search 100 bp 3'