Canonical Allele Identifier: CA1785188993

Gene: RP1

Linked Data

• dbSNP Id: rs1806124160
• gnomAD v4: 8-54628020-TATAAAAATGGATTTAATAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628023_54628041del , CM000670.2:g.54628023_54628041del	GRCh38
NC_000008.10:g.55540583_55540601del , CM000670.1:g.55540583_55540601del	GRCh37
NC_000008.9:g.55703136_55703154del	NCBI36
NG_009840.1:g.16957_16975del
NG_009840.2:g.16957_16975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4141_4159del MANE Select	ENSP00000220676.1:p.Lys1381TrpfsTer10
ENST00000636932.1:c.787+5735_787+5753del	ENSP00000489857.1:n.787+5735_787+5753del
ENST00000637698.1:c.787+5735_787+5753del	ENSP00000490104.1:n.787+5735_787+5753del
ENST00000220676.1:c.4141_4159del	ENSP00000220676.1:p.Lys1381TrpfsTer10
NM_006269.1:c.4141_4159del	NP_006260.1:p.Lys1381TrpfsTer10
XM_017013721.1:c.4162_4180del	XP_016869210.1:p.Lys1388TrpfsTer10
XM_017013722.1:c.4141_4159del	XP_016869211.1:p.Lys1381TrpfsTer10
NM_001375654.1:c.787+5735_787+5753del	NP_001362583.1:n.787+5735_787+5753del
NM_006269.2:c.4141_4159del MANE Select	NP_006260.1:p.Lys1381TrpfsTer10