Canonical Allele Identifier: CA2524358896

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628003_54628014del , CM000670.2:g.54628003_54628014del	GRCh38
NC_000008.10:g.55540563_55540574del , CM000670.1:g.55540563_55540574del	GRCh37
NC_000008.9:g.55703116_55703127del	NCBI36
NG_009840.1:g.16937_16948del
NG_009840.2:g.16937_16948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4121_4132del MANE Select	ENSP00000220676.1:p.Ile1374_Pro1378delinsThr
ENST00000636932.1:c.787+5715_787+5726del	ENSP00000489857.1:n.787+5715_787+5726del
ENST00000637698.1:c.787+5715_787+5726del	ENSP00000490104.1:n.787+5715_787+5726del
ENST00000220676.1:c.4121_4132del	ENSP00000220676.1:p.Ile1374_Pro1378delinsThr
NM_006269.1:c.4121_4132del	NP_006260.1:p.Ile1374_Pro1378delinsThr
XM_017013721.1:c.4142_4153del	XP_016869210.1:p.Ile1381_Pro1385delinsThr
XM_017013722.1:c.4121_4132del	XP_016869211.1:p.Ile1374_Pro1378delinsThr
NM_001375654.1:c.787+5715_787+5726del	NP_001362583.1:n.787+5715_787+5726del
NM_006269.2:c.4121_4132del MANE Select	NP_006260.1:p.Ile1374_Pro1378delinsThr