Canonical Allele Identifier: CA2687301880

Gene: RP1

Linked Data

• gnomAD v4: 8-54627802-A-ATACTGT

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