Canonical Allele Identifier: CA2636388228

Gene: RAI1

Linked Data

• gnomAD v4: 17-17793779-C-CCTGCAGCAGCAGCAGCAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793780_17793781insTGCAGCAGCAGCAGCAGCAGC , CM000679.2:g.17793780_17793781insTGCAGCAGCAGCAGCAGCAGC	GRCh38
NC_000017.10:g.17697094_17697095insTGCAGCAGCAGCAGCAGCAGC , CM000679.1:g.17697094_17697095insTGCAGCAGCAGCAGCAGCAGC	GRCh37
NC_000017.9:g.17637819_17637820insTGCAGCAGCAGCAGCAGCAGC	NCBI36
NG_007101.2:g.117308_117309insTGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.832_833insTGCAGCAGCAGCAGCAGCAGC MANE Select	ENSP00000323074.4:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
ENST00000640861.1:c.766_767insTGCAGCAGCAGCAGCAGCAGC	ENSP00000491773.1:p.Asp255_Gln256insLeuGlnGlnGlnGlnGlnGln
ENST00000353383.5:c.832_833insTGCAGCAGCAGCAGCAGCAGC	ENSP00000323074.4:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
ENST00000395774.1:c.832_833insTGCAGCAGCAGCAGCAGCAGC	ENSP00000379120.1:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
NM_030665.3:c.832_833insTGCAGCAGCAGCAGCAGCAGC	NP_109590.3:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
XM_017024025.1:c.832_833insTGCAGCAGCAGCAGCAGCAGC	XP_016879514.1:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
XM_017024026.1:c.832_833insTGCAGCAGCAGCAGCAGCAGC	XP_016879515.1:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
XM_017024027.1:c.832_833insTGCAGCAGCAGCAGCAGCAGC	XP_016879516.1:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
XM_017024028.2:c.832_833insTGCAGCAGCAGCAGCAGCAGC	XP_016879517.1:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln
NM_030665.4:c.832_833insTGCAGCAGCAGCAGCAGCAGC MANE Select	NP_109590.3:p.Asp277_Gln278insLeuGlnGlnGlnGlnGlnGln