Canonical Allele Identifier: CA2636388226

Gene: RAI1

Linked Data

• gnomAD v4: 17-17793777-GACCAGCAGCAGCAGCAGCAGCAGCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793779_17793805del , CM000679.2:g.17793779_17793805del	GRCh38
NC_000017.10:g.17697093_17697119del , CM000679.1:g.17697093_17697119del	GRCh37
NC_000017.9:g.17637818_17637844del	NCBI36
NG_007101.2:g.117307_117333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.831_857del MANE Select	ENSP00000323074.4:p.Asp277_Gln286delinsGlu
ENST00000640861.1:c.765_791del	ENSP00000491773.1:p.Asp255_Gln264delinsGlu
ENST00000353383.5:c.831_857del	ENSP00000323074.4:p.Asp277_Gln286delinsGlu
ENST00000395774.1:c.831_857del	ENSP00000379120.1:p.Asp277_Gln286delinsGlu
NM_030665.3:c.831_857del	NP_109590.3:p.Asp277_Gln286delinsGlu
XM_017024025.1:c.831_857del	XP_016879514.1:p.Asp277_Gln286delinsGlu
XM_017024026.1:c.831_857del	XP_016879515.1:p.Asp277_Gln286delinsGlu
XM_017024027.1:c.831_857del	XP_016879516.1:p.Asp277_Gln286delinsGlu
XM_017024028.2:c.831_857del	XP_016879517.1:p.Asp277_Gln286delinsGlu
NM_030665.4:c.831_857del MANE Select	NP_109590.3:p.Asp277_Gln286delinsGlu