Canonical Allele Identifier: CA1785188992

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628020_54628039delinsTATAAAAATGGATTTAATAC , CM000670.2:g.54628020_54628039delinsTATAAAAATGGATTTAATAC	GRCh38
NC_000008.10:g.55540580_55540599delinsTATAAAAATGGATTTAATAC , CM000670.1:g.55540580_55540599delinsTATAAAAATGGATTTAATAC	GRCh37
NC_000008.9:g.55703133_55703152delinsTATAAAAATGGATTTAATAC	NCBI36
NG_009840.1:g.16954_16973delinsTATAAAAATGGATTTAATAC
NG_009840.2:g.16954_16973delinsTATAAAAATGGATTTAATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4138_4157delinsTATAAAAATGGATTTAATAC MANE Select	ENSP00000220676.1:p.Tyr1380=
ENST00000636932.1:c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC	ENSP00000489857.1:n.787+5732_787+5751delinsTATAAAAATGGATTTAAT...
ENST00000637698.1:c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC	ENSP00000490104.1:n.787+5732_787+5751delinsTATAAAAATGGATTTAAT...
ENST00000220676.1:c.4138_4157delinsTATAAAAATGGATTTAATAC	ENSP00000220676.1:p.Tyr1380=
NM_006269.1:c.4138_4157delinsTATAAAAATGGATTTAATAC	NP_006260.1:p.Tyr1380=
XM_017013721.1:c.4159_4178delinsTATAAAAATGGATTTAATAC	XP_016869210.1:p.Tyr1387=
XM_017013722.1:c.4138_4157delinsTATAAAAATGGATTTAATAC	XP_016869211.1:p.Tyr1380=
NM_001375654.1:c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC	NP_001362583.1:n.787+5732_787+5751delinsTATAAAAATGGATTTAATAC
NM_006269.2:c.4138_4157delinsTATAAAAATGGATTTAATAC MANE Select	NP_006260.1:p.Tyr1380=