Canonical Allele Identifier: CA177181005

Gene: RP1

Linked Data

• dbSNP Id: rs761273992
• gnomAD v4: 8-54627876-A-AC
• MyVariant Identifiers: chr8:g.55540436_55540437insC (hg19) ; chr8:g.54627876_54627877insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627878dup , CM000670.2:g.54627878dup	GRCh38
NC_000008.10:g.55540438dup , CM000670.1:g.55540438dup	GRCh37
NC_000008.9:g.55702991dup	NCBI36
NG_009840.1:g.16812dup
NG_009840.2:g.16812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3996dup MANE Select	ENSP00000220676.1:p.Tyr1333LeufsTer11
ENST00000636932.1:c.787+5590dup	ENSP00000489857.1:n.787+5590dup
ENST00000637698.1:c.787+5590dup	ENSP00000490104.1:n.787+5590dup
ENST00000220676.1:c.3996dup	ENSP00000220676.1:p.Tyr1333LeufsTer11
NM_006269.1:c.3996dup	NP_006260.1:p.Tyr1333LeufsTer11
XM_017013721.1:c.4017dup	XP_016869210.1:p.Tyr1340LeufsTer11
XM_017013722.1:c.3996dup	XP_016869211.1:p.Tyr1333LeufsTer11
NM_001375654.1:c.787+5590dup	NP_001362583.1:n.787+5590dup
NM_006269.2:c.3996dup MANE Select	NP_006260.1:p.Tyr1333LeufsTer11