Canonical Allele Identifier: CA1785188824

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627629_54627631delinsCTG , CM000670.2:g.54627629_54627631delinsCTG	GRCh38
NC_000008.10:g.55540189_55540191delinsCTG , CM000670.1:g.55540189_55540191delinsCTG	GRCh37
NC_000008.9:g.55702742_55702744delinsCTG	NCBI36
NG_009840.1:g.16563_16565delinsCTG
NG_009840.2:g.16563_16565delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3747_3749delinsCTG MANE Select	ENSP00000220676.1:p.Val1249=
ENST00000636932.1:c.787+5341_787+5343delinsCTG	ENSP00000489857.1:n.787+5341_787+5343delinsCTG
ENST00000637698.1:c.787+5341_787+5343delinsCTG	ENSP00000490104.1:n.787+5341_787+5343delinsCTG
ENST00000220676.1:c.3747_3749delinsCTG	ENSP00000220676.1:p.Val1249=
NM_006269.1:c.3747_3749delinsCTG	NP_006260.1:p.Val1249=
XM_017013721.1:c.3768_3770delinsCTG	XP_016869210.1:p.Val1256=
XM_017013722.1:c.3747_3749delinsCTG	XP_016869211.1:p.Val1249=
NM_001375654.1:c.787+5341_787+5343delinsCTG	NP_001362583.1:n.787+5341_787+5343delinsCTG
NM_006269.2:c.3747_3749delinsCTG MANE Select	NP_006260.1:p.Val1249=