Canonical Allele Identifier: CA177180869

Gene: RP1

Linked Data

• dbSNP Id: rs760084613
• MyVariant Identifiers: chr8:g.55540357_55540362del (hg19) ; chr8:g.54627797_54627802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627802_54627807del , CM000670.2:g.54627802_54627807del	GRCh38
NC_000008.10:g.55540362_55540367del , CM000670.1:g.55540362_55540367del	GRCh37
NC_000008.9:g.55702915_55702920del	NCBI36
NG_009840.1:g.16736_16741del
NG_009840.2:g.16736_16741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3920_3925del MANE Select	ENSP00000220676.1:p.Asp1307_Thr1308del
ENST00000636932.1:c.787+5514_787+5519del	ENSP00000489857.1:n.787+5514_787+5519del
ENST00000637698.1:c.787+5514_787+5519del	ENSP00000490104.1:n.787+5514_787+5519del
ENST00000220676.1:c.3920_3925del	ENSP00000220676.1:p.Asp1307_Thr1308del
NM_006269.1:c.3920_3925del	NP_006260.1:p.Asp1307_Thr1308del
XM_017013721.1:c.3941_3946del	XP_016869210.1:p.Asp1314_Thr1315del
XM_017013722.1:c.3920_3925del	XP_016869211.1:p.Asp1307_Thr1308del
NM_001375654.1:c.787+5514_787+5519del	NP_001362583.1:n.787+5514_787+5519del
NM_006269.2:c.3920_3925del MANE Select	NP_006260.1:p.Asp1307_Thr1308del