Canonical Allele Identifier: CA2695209288

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626333_54626334del , CM000670.2:g.54626333_54626334del	GRCh38
NC_000008.10:g.55538893_55538894del , CM000670.1:g.55538893_55538894del	GRCh37
NC_000008.9:g.55701446_55701447del	NCBI36
NG_009840.1:g.15267_15268del
NG_009840.2:g.15267_15268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2451_2452del MANE Select	ENSP00000220676.1:p.Ser818PhefsTer6
ENST00000636932.1:c.787+4045_787+4046del	ENSP00000489857.1:n.787+4045_787+4046del
ENST00000637698.1:c.787+4045_787+4046del	ENSP00000490104.1:n.787+4045_787+4046del
ENST00000220676.1:c.2451_2452del	ENSP00000220676.1:p.Ser818PhefsTer6
NM_006269.1:c.2451_2452del	NP_006260.1:p.Ser818PhefsTer6
XM_017013721.1:c.2472_2473del	XP_016869210.1:p.Ser825PhefsTer6
XM_017013722.1:c.2451_2452del	XP_016869211.1:p.Ser818PhefsTer6
NM_001375654.1:c.787+4045_787+4046del	NP_001362583.1:n.787+4045_787+4046del
NM_006269.2:c.2451_2452del MANE Select	NP_006260.1:p.Ser818PhefsTer6