Canonical Allele Identifier: CA2687301872

Gene: RP1

Linked Data

• gnomAD v4: 8-54627643-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627644del , CM000670.2:g.54627644del	GRCh38
NC_000008.10:g.55540204del , CM000670.1:g.55540204del	GRCh37
NC_000008.9:g.55702757del	NCBI36
NG_009840.1:g.16578del
NG_009840.2:g.16578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3762del MANE Select	ENSP00000220676.1:p.Thr1255LeufsTer10
ENST00000636932.1:c.787+5356del	ENSP00000489857.1:n.787+5356del
ENST00000637698.1:c.787+5356del	ENSP00000490104.1:n.787+5356del
ENST00000220676.1:c.3762del	ENSP00000220676.1:p.Thr1255LeufsTer10
NM_006269.1:c.3762del	NP_006260.1:p.Thr1255LeufsTer10
XM_017013721.1:c.3783del	XP_016869210.1:p.Thr1262LeufsTer10
XM_017013722.1:c.3762del	XP_016869211.1:p.Thr1255LeufsTer10
NM_001375654.1:c.787+5356del	NP_001362583.1:n.787+5356del
NM_006269.2:c.3762del MANE Select	NP_006260.1:p.Thr1255LeufsTer10