Canonical Allele Identifier: CA1785166076

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54630314_54630321del , CM000670.2:g.54630314_54630321del	GRCh38
NC_000008.10:g.55542874_55542881del , CM000670.1:g.55542874_55542881del	GRCh37
NC_000008.9:g.55705427_55705434del	NCBI36
NG_009840.1:g.19248_19255del
NG_009840.2:g.19248_19255del

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.6432_6439del MANE Select	NP_006260.1:p.Leu2144PhefsTer2
ENST00000220676.2:c.6432_6439del MANE Select	ENSP00000220676.1:p.Leu2144PhefsTer2
NM_001375654.1:c.787+8026_787+8033del	NP_001362583.1:n.787+8026_787+8033del
NM_006269.1:c.6432_6439del	NP_006260.1:p.Leu2144PhefsTer2
ENST00000220676.1:c.6432_6439del	ENSP00000220676.1:p.Leu2144PhefsTer2
ENST00000636932.1:c.787+8026_787+8033del	ENSP00000489857.1:n.787+8026_787+8033del
ENST00000637698.1:c.787+8026_787+8033del	ENSP00000490104.1:n.787+8026_787+8033del
XM_017013721.1:c.6453_6460del	XP_016869210.1:p.Leu2151PhefsTer2
XM_017013722.1:c.6432_6439del	XP_016869211.1:p.Leu2144PhefsTer2