Canonical Allele Identifier: CA1947586025

Gene: TOLLIP

Linked Data

• dbSNP Id: rs1864302141

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1302263_1302270del , CM000673.2:g.1302263_1302270del	GRCh38
NC_000011.9:g.1323493_1323500del , CM000673.1:g.1323493_1323500del	GRCh37
NC_000011.8:g.1280069_1280076del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317204.11:c.34-6474_34-6467del MANE Select	ENSP00000314733.5:n.34-6474_34-6467del
ENST00000263646.11:c.13-6537_13-6530del	ENSP00000263646.6:n.13-6537_13-6530del
ENST00000317204.10:c.34-6474_34-6467del	ENSP00000314733.5:n.34-6474_34-6467del
ENST00000525159.5:c.34-6474_34-6467del	ENSP00000432668.1:n.34-6474_34-6467del
ENST00000527085.1:n.180-3704_180-3697del
ENST00000527638.1:n.133-6474_133-6467del
ENST00000527746.5:n.126-6474_126-6467del
ENST00000527886.5:c.-175+316_-175+323del	ENSP00000434035.1:n.-175+316_-175+323del
ENST00000527938.5:c.34-6474_34-6467del	ENSP00000432778.1:n.34-6474_34-6467del
ENST00000530506.5:c.33+7198_33+7205del	ENSP00000436393.1:n.33+7198_33+7205del
ENST00000530541.1:c.33+7198_33+7205del	ENSP00000434494.1:n.33+7198_33+7205del
ENST00000530821.1:n.372+3555_372+3562del
ENST00000532551.1:n.159-6474_159-6467del
NM_019009.3:c.34-6474_34-6467del	NP_061882.2:n.34-6474_34-6467del
XM_011520192.1:c.-175+316_-175+323del	XP_011518494.1:n.-175+316_-175+323del
XR_930968.1:n.307_314del
NM_001318512.1:c.33+7198_33+7205del	NP_001305441.1:n.33+7198_33+7205del
NM_001318514.1:c.-175+316_-175+323del	NP_001305443.1:n.-175+316_-175+323del
NM_001318515.1:c.34-6474_34-6467del	NP_001305444.1:n.34-6474_34-6467del
NM_001318516.1:c.34-6474_34-6467del	NP_001305445.1:n.34-6474_34-6467del
XR_001747910.2:n.159-6474_159-6467del
XR_930968.2:n.309_316del
NM_019009.4:c.34-6474_34-6467del MANE Select	NP_061882.2:n.34-6474_34-6467del
NM_001318512.2:c.33+7198_33+7205del	NP_001305441.1:n.33+7198_33+7205del
NM_001318515.2:c.34-6474_34-6467del	NP_001305444.1:n.34-6474_34-6467del
NM_001318516.2:c.34-6474_34-6467del	NP_001305445.1:n.34-6474_34-6467del
NM_001318514.2:c.-175+316_-175+323del	NP_001305443.1:n.-175+316_-175+323del