Canonical Allele Identifier: CA8418207

Gene: RAI1

Linked Data

• dbSNP Id: rs758128530
• ExAC: 17:17697091 GACC / G
• gnomAD v2: 17-17697091-GACC-G
• MyVariant Identifiers: chr17:g.17697092_17697094del (hg19) ; chr17:g.17793778_17793780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793779_17793781del , CM000679.2:g.17793779_17793781del	GRCh38
NC_000017.10:g.17697093_17697095del , CM000679.1:g.17697093_17697095del	GRCh37
NC_000017.9:g.17637818_17637820del	NCBI36
NG_007101.2:g.117307_117309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.831_833del MANE Select	ENSP00000323074.4:p.Asp277_Gln278delinsGlu
ENST00000640861.1:c.765_767del	ENSP00000491773.1:p.Asp255_Gln256delinsGlu
ENST00000353383.5:c.831_833del	ENSP00000323074.4:p.Asp277_Gln278delinsGlu
ENST00000395774.1:c.831_833del	ENSP00000379120.1:p.Asp277_Gln278delinsGlu
NM_030665.3:c.831_833del	NP_109590.3:p.Asp277_Gln278delinsGlu
XM_017024025.1:c.831_833del	XP_016879514.1:p.Asp277_Gln278delinsGlu
XM_017024026.1:c.831_833del	XP_016879515.1:p.Asp277_Gln278delinsGlu
XM_017024027.1:c.831_833del	XP_016879516.1:p.Asp277_Gln278delinsGlu
XM_017024028.2:c.831_833del	XP_016879517.1:p.Asp277_Gln278delinsGlu
NM_030665.4:c.831_833del MANE Select	NP_109590.3:p.Asp277_Gln278delinsGlu