Canonical Allele Identifier: CA2687301880
Gene: RP1 HGNC NCBI

Linked Data

gnomAD v4: 8-54627802-A-ATACTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627803_54627808dup , CM000670.2:g.54627803_54627808dup GRCh38
NC_000008.10:g.55540363_55540368dup , CM000670.1:g.55540363_55540368dup GRCh37
NC_000008.9:g.55702916_55702921dup NCBI36
NG_009840.1:g.16737_16742dup
NG_009840.2:g.16737_16742dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3921_3926dup MANE Select ENSP00000220676.1:p.Val1309_Phe1310insThrVal
ENST00000636932.1:c.787+5515_787+5520dup ENSP00000489857.1:n.787+5515_787+5520dup
ENST00000637698.1:c.787+5515_787+5520dup ENSP00000490104.1:n.787+5515_787+5520dup
ENST00000220676.1:c.3921_3926dup ENSP00000220676.1:p.Val1309_Phe1310insThrVal
NM_006269.1:c.3921_3926dup NP_006260.1:p.Val1309_Phe1310insThrVal
XM_017013721.1:c.3942_3947dup XP_016869210.1:p.Val1316_Phe1317insThrVal
XM_017013722.1:c.3921_3926dup XP_016869211.1:p.Val1309_Phe1310insThrVal
NM_001375654.1:c.787+5515_787+5520dup NP_001362583.1:n.787+5515_787+5520dup
NM_006269.2:c.3921_3926dup MANE Select NP_006260.1:p.Val1309_Phe1310insThrVal
Search 100 bp 5'
Search 100 bp 3'