Canonical Allele Identifier: CA1151756

Gene: RIT1

Linked Data

• ClinVar Variation Id: 506383
• ClinVar RCV Id: RCV001722552 ; RCV002368035
• dbSNP Id: rs766063111
• ExAC: 1:155870191 ATCTT / A
• gnomAD v2: 1-155870191-ATCTT-A
• gnomAD v3: 1-155900400-ATCTT-A
• gnomAD v4: 1-155900400-ATCTT-A
• MyVariant Identifiers: chr1:g.155870192_155870195del (hg19) ; chr1:g.155900402_155900405del (hg38) ; chr1:g.155900401_155900404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900405_155900408del , CM000663.2:g.155900405_155900408del	GRCh38
NC_000001.10:g.155870196_155870199del , CM000663.1:g.155870196_155870199del	GRCh37
NC_000001.9:g.154136820_154136823del	NCBI36
NG_033885.1:g.15999_16002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*373_*376del	ENSP00000476319.1:n.*373_*376del
ENST00000539040.6:c.536_539del	ENSP00000441950.1:p.Lys179IlefsTer3
ENST00000704061.1:c.*315_*318del	ENSP00000515664.1:n.*315_*318del
ENST00000368323.8:c.644_647del MANE Select	ENSP00000357306.3:p.Lys215IlefsTer3
ENST00000651853.1:c.647_650del	ENSP00000498685.1:p.Lys216IlefsTer3
ENST00000368322.7:c.695_698del	ENSP00000357305.3:p.Lys232IlefsTer3
ENST00000368323.7:c.644_647del	ENSP00000357306.3:p.Lys215IlefsTer3
ENST00000461050.5:c.*373_*376del	ENSP00000476319.1:n.*373_*376del
ENST00000539040.5:c.536_539del	ENSP00000441950.1:p.Lys179IlefsTer3
NM_001256820.1:c.536_539del	NP_001243749.1:p.Lys179IlefsTer3
NM_001256821.1:c.695_698del	NP_001243750.1:p.Lys232IlefsTer3
NM_006912.5:c.644_647del	NP_008843.1:p.Lys215IlefsTer3
NM_001256820.2:c.536_539del	NP_001243749.1:p.Lys179IlefsTer3
NM_001256821.2:c.695_698del	NP_001243750.1:p.Lys232IlefsTer3
NM_006912.6:c.644_647del MANE Select	NP_008843.1:p.Lys215IlefsTer3