Canonical Allele Identifier: CA2579168460

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626104del , CM000670.2:g.54626104del	GRCh38
NC_000008.10:g.55538664del , CM000670.1:g.55538664del	GRCh37
NC_000008.9:g.55701217del	NCBI36
NG_009840.1:g.15038del
NG_009840.2:g.15038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2222del MANE Select	ENSP00000220676.1:p.Asn741IlefsTer22
ENST00000636932.1:c.787+3816del	ENSP00000489857.1:n.787+3816del
ENST00000637698.1:c.787+3816del	ENSP00000490104.1:n.787+3816del
ENST00000220676.1:c.2222del	ENSP00000220676.1:p.Asn741IlefsTer22
NM_006269.1:c.2222del	NP_006260.1:p.Asn741IlefsTer22
XM_017013721.1:c.2243del	XP_016869210.1:p.Asn748IlefsTer22
XM_017013722.1:c.2222del	XP_016869211.1:p.Asn741IlefsTer22
NM_001375654.1:c.787+3816del	NP_001362583.1:n.787+3816del
NM_006269.2:c.2222del MANE Select	NP_006260.1:p.Asn741IlefsTer22