Canonical Allele Identifier: CA2780387009

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626114_54626115insGTTTATTCTCTCATTC , CM000670.2:g.54626114_54626115insGTTTATTCTCTCATTC	GRCh38
NC_000008.10:g.55538674_55538675insGTTTATTCTCTCATTC , CM000670.1:g.55538674_55538675insGTTTATTCTCTCATTC	GRCh37
NC_000008.9:g.55701227_55701228insGTTTATTCTCTCATTC	NCBI36
NG_009840.1:g.15048_15049insGTTTATTCTCTCATTC
NG_009840.2:g.15048_15049insGTTTATTCTCTCATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2232_2233insGTTTATTCTCTCATTC MANE Select	ENSP00000220676.1:p.Ser745ValfsTer9
ENST00000636932.1:c.787+3826_787+3827insGTTTATTCTCTCATTC	ENSP00000489857.1:n.787+3826_787+3827insGTTTATTCTCTCATTC
ENST00000637698.1:c.787+3826_787+3827insGTTTATTCTCTCATTC	ENSP00000490104.1:n.787+3826_787+3827insGTTTATTCTCTCATTC
ENST00000220676.1:c.2232_2233insGTTTATTCTCTCATTC	ENSP00000220676.1:p.Ser745ValfsTer9
NM_006269.1:c.2232_2233insGTTTATTCTCTCATTC	NP_006260.1:p.Ser745ValfsTer9
XM_017013721.1:c.2253_2254insGTTTATTCTCTCATTC	XP_016869210.1:p.Ser752ValfsTer9
XM_017013722.1:c.2232_2233insGTTTATTCTCTCATTC	XP_016869211.1:p.Ser745ValfsTer9
NM_001375654.1:c.787+3826_787+3827insGTTTATTCTCTCATTC	NP_001362583.1:n.787+3826_787+3827insGTTTATTCTCTCATTC
NM_006269.2:c.2232_2233insGTTTATTCTCTCATTC MANE Select	NP_006260.1:p.Ser745ValfsTer9