Canonical Allele Identifier: CA673396372
Gene: TOLLIP HGNC NCBI

Linked Data

dbSNP Id: rs1333622777

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1304604_1304606del , CM000673.2:g.1304604_1304606del GRCh38
NC_000011.9:g.1325834_1325836del , CM000673.1:g.1325834_1325836del GRCh37
NC_000011.8:g.1282410_1282412del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317204.11:c.33+4866_33+4868del MANE Select ENSP00000314733.5:n.33+4866_33+4868del
ENST00000263646.11:c.12+4887_12+4889del ENSP00000263646.6:n.12+4887_12+4889del
ENST00000317204.10:c.33+4866_33+4868del ENSP00000314733.5:n.33+4866_33+4868del
ENST00000525159.5:c.33+4866_33+4868del ENSP00000432668.1:n.33+4866_33+4868del
ENST00000527085.1:n.179+4866_179+4868del
ENST00000527638.1:n.132+4866_132+4868del
ENST00000527746.5:n.125+4866_125+4868del
ENST00000527938.5:c.33+4866_33+4868del ENSP00000432778.1:n.33+4866_33+4868del
ENST00000530506.5:c.33+4866_33+4868del ENSP00000436393.1:n.33+4866_33+4868del
ENST00000530541.1:c.33+4866_33+4868del ENSP00000434494.1:n.33+4866_33+4868del
ENST00000530821.1:n.372+1223_372+1225del
ENST00000532551.1:n.158+4866_158+4868del
NM_019009.3:c.33+4866_33+4868del NP_061882.2:n.33+4866_33+4868del
NM_001318512.1:c.33+4866_33+4868del NP_001305441.1:n.33+4866_33+4868del
NM_001318515.1:c.33+4866_33+4868del NP_001305444.1:n.33+4866_33+4868del
NM_001318516.1:c.33+4866_33+4868del NP_001305445.1:n.33+4866_33+4868del
XR_001747910.2:n.158+4866_158+4868del
NM_019009.4:c.33+4866_33+4868del MANE Select NP_061882.2:n.33+4866_33+4868del
NM_001318512.2:c.33+4866_33+4868del NP_001305441.1:n.33+4866_33+4868del
NM_001318515.2:c.33+4866_33+4868del NP_001305444.1:n.33+4866_33+4868del
NM_001318516.2:c.33+4866_33+4868del NP_001305445.1:n.33+4866_33+4868del