Canonical Allele Identifier: CA2499219352

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628053del , CM000670.2:g.54628053del	GRCh38
NC_000008.10:g.55540613del , CM000670.1:g.55540613del	GRCh37
NC_000008.9:g.55703166del	NCBI36
NG_009840.1:g.16987del
NG_009840.2:g.16987del

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.4171del MANE Select	NP_006260.1:p.Gln1391LysfsTer6
ENST00000220676.2:c.4171del MANE Select	ENSP00000220676.1:p.Gln1391LysfsTer6
NM_001375654.1:c.787+5765del	NP_001362583.1:n.787+5765del
NM_006269.1:c.4171del	NP_006260.1:p.Gln1391LysfsTer6
ENST00000220676.1:c.4171del	ENSP00000220676.1:p.Gln1391LysfsTer6
ENST00000636932.1:c.787+5765del	ENSP00000489857.1:n.787+5765del
ENST00000637698.1:c.787+5765del	ENSP00000490104.1:n.787+5765del
XM_017013721.1:c.4192del	XP_016869210.1:p.Gln1398LysfsTer6
XM_017013722.1:c.4171del	XP_016869211.1:p.Gln1391LysfsTer6