Canonical Allele Identifier: CA2250667229

Gene: RAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793787_17793800delinsAGCAGCAGCAGCAG , CM000679.2:g.17793787_17793800delinsAGCAGCAGCAGCAG	GRCh38
NC_000017.10:g.17697101_17697114delinsAGCAGCAGCAGCAG , CM000679.1:g.17697101_17697114delinsAGCAGCAGCAGCAG	GRCh37
NC_000017.9:g.17637826_17637839delinsAGCAGCAGCAGCAG	NCBI36
NG_007101.2:g.117315_117328delinsAGCAGCAGCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.839_852delinsAGCAGCAGCAGCAG MANE Select	ENSP00000323074.4:p.Gln280=
ENST00000640861.1:c.773_786delinsAGCAGCAGCAGCAG	ENSP00000491773.1:p.Gln258=
ENST00000353383.5:c.839_852delinsAGCAGCAGCAGCAG	ENSP00000323074.4:p.Gln280=
ENST00000395774.1:c.839_852delinsAGCAGCAGCAGCAG	ENSP00000379120.1:p.Gln280=
NM_030665.3:c.839_852delinsAGCAGCAGCAGCAG	NP_109590.3:p.Gln280=
XM_017024025.1:c.839_852delinsAGCAGCAGCAGCAG	XP_016879514.1:p.Gln280=
XM_017024026.1:c.839_852delinsAGCAGCAGCAGCAG	XP_016879515.1:p.Gln280=
XM_017024027.1:c.839_852delinsAGCAGCAGCAGCAG	XP_016879516.1:p.Gln280=
XM_017024028.2:c.839_852delinsAGCAGCAGCAGCAG	XP_016879517.1:p.Gln280=
NM_030665.4:c.839_852delinsAGCAGCAGCAGCAG MANE Select	NP_109590.3:p.Gln280=