Canonical Allele Identifier: CA1200378379
Community Standard Title: NM_006912.6(RIT1):c.163+717_163+718delinsGC
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155909732_155909733delinsGC , CM000663.2:g.155909732_155909733delinsGC GRCh38
NC_000001.10:g.155879523_155879524delinsGC , CM000663.1:g.155879523_155879524delinsGC GRCh37
NC_000001.9:g.154146147_154146148delinsGC NCBI36
NG_033885.1:g.6670_6671delinsGC

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.163+717_163+718delinsGC MANE Select NP_008843.1:n.163+717_163+718delinsGC
ENST00000368323.8:c.163+717_163+718delinsGC MANE Select ENSP00000357306.3:n.163+717_163+718delinsGC
NM_001256820.1:c.55+717_55+718delinsGC NP_001243749.1:n.55+717_55+718delinsGC
NM_001256820.2:c.55+717_55+718delinsGC NP_001243749.1:n.55+717_55+718delinsGC
NM_001256821.1:c.214+717_214+718delinsGC NP_001243750.1:n.214+717_214+718delinsGC
NM_001256821.2:c.214+717_214+718delinsGC NP_001243750.1:n.214+717_214+718delinsGC
NM_006912.5:c.163+717_163+718delinsGC NP_008843.1:n.163+717_163+718delinsGC
ENST00000368322.7:c.214+717_214+718delinsGC ENSP00000357305.3:n.214+717_214+718delinsGC
ENST00000368323.7:c.163+717_163+718delinsGC ENSP00000357306.3:n.163+717_163+718delinsGC
ENST00000461050.5:c.163+717_163+718delinsGC ENSP00000476319.1:n.163+717_163+718delinsGC
ENST00000461050.6:c.163+717_163+718delinsGC ENSP00000476319.1:n.163+717_163+718delinsGC
ENST00000539040.5:c.55+717_55+718delinsGC ENSP00000441950.1:n.55+717_55+718delinsGC
ENST00000539040.6:c.55+717_55+718delinsGC ENSP00000441950.1:n.55+717_55+718delinsGC
ENST00000609492.1:c.163+717_163+718delinsGC ENSP00000476612.1:n.163+717_163+718delinsGC
ENST00000650659.1:n.345+717_345+718delinsGC
ENST00000651833.1:c.163+717_163+718delinsGC ENSP00000498732.1:n.163+717_163+718delinsGC
ENST00000651853.1:c.163+717_163+718delinsGC ENSP00000498685.1:n.163+717_163+718delinsGC
ENST00000704061.1:c.214+717_214+718delinsGC ENSP00000515664.1:n.214+717_214+718delinsGC