Canonical Allele Identifier: CA645373073

Gene: RAI1

Linked Data

• ClinVar Variation Id: 436487
• ClinVar RCV Id: RCV000503880
• dbSNP Id: rs1555565014
• MyVariant Identifiers: chr17:g.17697100_17697101insCAGCAG (hg19) ; chr17:g.17793786_17793787insCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793786_17793787insCAGCAG , CM000679.2:g.17793786_17793787insCAGCAG	GRCh38
NC_000017.10:g.17697100_17697101insCAGCAG , CM000679.1:g.17697100_17697101insCAGCAG	GRCh37
NC_000017.9:g.17637825_17637826insCAGCAG	NCBI36
NG_007101.2:g.117314_117315insCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.838_839insCAGCAG MANE Select	ENSP00000323074.4:p.Gln280delinsProAlaGlu
ENST00000640861.1:c.772_773insCAGCAG	ENSP00000491773.1:p.Gln258delinsProAlaGlu
ENST00000353383.5:c.838_839insCAGCAG	ENSP00000323074.4:p.Gln280delinsProAlaGlu
ENST00000395774.1:c.838_839insCAGCAG	ENSP00000379120.1:p.Gln280delinsProAlaGlu
NM_030665.3:c.838_839insCAGCAG	NP_109590.3:p.Gln280delinsProAlaGlu
XM_017024025.1:c.838_839insCAGCAG	XP_016879514.1:p.Gln280delinsProAlaGlu
XM_017024026.1:c.838_839insCAGCAG	XP_016879515.1:p.Gln280delinsProAlaGlu
XM_017024027.1:c.838_839insCAGCAG	XP_016879516.1:p.Gln280delinsProAlaGlu
XM_017024028.2:c.838_839insCAGCAG	XP_016879517.1:p.Gln280delinsProAlaGlu
NM_030665.4:c.838_839insCAGCAG MANE Select	NP_109590.3:p.Gln280delinsProAlaGlu