Canonical Allele Identifier: CA1785188941

Gene: RP1

Linked Data

• dbSNP Id: rs1806117644
• gnomAD v4: 8-54627911-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627916del , CM000670.2:g.54627916del	GRCh38
NC_000008.10:g.55540476del , CM000670.1:g.55540476del	GRCh37
NC_000008.9:g.55703029del	NCBI36
NG_009840.1:g.16850del
NG_009840.2:g.16850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4034del MANE Select	ENSP00000220676.1:p.Leu1345Ter
ENST00000636932.1:c.787+5628del	ENSP00000489857.1:n.787+5628del
ENST00000637698.1:c.787+5628del	ENSP00000490104.1:n.787+5628del
ENST00000220676.1:c.4034del	ENSP00000220676.1:p.Leu1345Ter
NM_006269.1:c.4034del	NP_006260.1:p.Leu1345Ter
XM_017013721.1:c.4055del	XP_016869210.1:p.Leu1352Ter
XM_017013722.1:c.4034del	XP_016869211.1:p.Leu1345Ter
NM_001375654.1:c.787+5628del	NP_001362583.1:n.787+5628del
NM_006269.2:c.4034del MANE Select	NP_006260.1:p.Leu1345Ter