Canonical Allele Identifier: CA16620343
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423003
ClinVar RCV Id: RCV000485396
dbSNP Id: rs1064796156
MyVariant Identifiers: chr17:g.17699655_17699658del (hg19) chr17:g.17796341_17796344del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17796341_17796344del , CM000679.2:g.17796341_17796344del GRCh38
NC_000017.10:g.17699655_17699658del , CM000679.1:g.17699655_17699658del GRCh37
NC_000017.9:g.17640380_17640383del NCBI36
NG_007101.2:g.119869_119872del

Transcript Alleles

HGVS Amino-acid change
ENST00000353383.6:c.3393_3396del MANE Select ENSP00000323074.4:p.Asp1132HisfsTer12
ENST00000640861.1:c.3252_3255del ENSP00000491773.1:p.Asp1085HisfsTer12
ENST00000353383.5:c.3393_3396del ENSP00000323074.4:p.Asp1132HisfsTer12
NM_030665.3:c.3393_3396del NP_109590.3:p.Asp1132HisfsTer12
XM_017024025.1:c.3393_3396del XP_016879514.1:p.Asp1132HisfsTer12
XM_017024026.1:c.3393_3396del XP_016879515.1:p.Asp1132HisfsTer12
XM_017024027.1:c.3393_3396del XP_016879516.1:p.Asp1132HisfsTer12
XM_017024028.2:c.3393_3396del XP_016879517.1:p.Asp1132HisfsTer12
NM_030665.4:c.3393_3396del MANE Select NP_109590.3:p.Asp1132HisfsTer12
Search 100 bp 5'
Search 100 bp 3'