Canonical Allele Identifier: CA597048457

Gene: TOLLIP

Linked Data

• dbSNP Id: rs1162533174
• gnomAD v2: 11-1323504-TCAGGA-T
• gnomAD v3: 11-1302274-TCAGGA-T
• gnomAD v4: 11-1302274-TCAGGA-T
• MyVariant Identifiers: chr11:g.1323505_1323509del (hg19) ; chr11:g.1302275_1302279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1302278_1302282del , CM000673.2:g.1302278_1302282del	GRCh38
NC_000011.9:g.1323508_1323512del , CM000673.1:g.1323508_1323512del	GRCh37
NC_000011.8:g.1280084_1280088del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317204.11:c.34-6485_34-6481del MANE Select	ENSP00000314733.5:n.34-6485_34-6481del
ENST00000263646.11:c.13-6548_13-6544del	ENSP00000263646.6:n.13-6548_13-6544del
ENST00000317204.10:c.34-6485_34-6481del	ENSP00000314733.5:n.34-6485_34-6481del
ENST00000525159.5:c.34-6485_34-6481del	ENSP00000432668.1:n.34-6485_34-6481del
ENST00000527085.1:n.180-3715_180-3711del
ENST00000527638.1:n.133-6485_133-6481del
ENST00000527746.5:n.126-6485_126-6481del
ENST00000527886.5:c.-175+305_-175+309del	ENSP00000434035.1:n.-175+305_-175+309del
ENST00000527938.5:c.34-6485_34-6481del	ENSP00000432778.1:n.34-6485_34-6481del
ENST00000530506.5:c.33+7187_33+7191del	ENSP00000436393.1:n.33+7187_33+7191del
ENST00000530541.1:c.33+7187_33+7191del	ENSP00000434494.1:n.33+7187_33+7191del
ENST00000530821.1:n.372+3544_372+3548del
ENST00000532551.1:n.159-6485_159-6481del
NM_019009.3:c.34-6485_34-6481del	NP_061882.2:n.34-6485_34-6481del
XM_011520192.1:c.-175+305_-175+309del	XP_011518494.1:n.-175+305_-175+309del
XR_930968.1:n.296_300del
NM_001318512.1:c.33+7187_33+7191del	NP_001305441.1:n.33+7187_33+7191del
NM_001318514.1:c.-175+305_-175+309del	NP_001305443.1:n.-175+305_-175+309del
NM_001318515.1:c.34-6485_34-6481del	NP_001305444.1:n.34-6485_34-6481del
NM_001318516.1:c.34-6485_34-6481del	NP_001305445.1:n.34-6485_34-6481del
XR_001747910.2:n.159-6485_159-6481del
XR_930968.2:n.298_302del
NM_019009.4:c.34-6485_34-6481del MANE Select	NP_061882.2:n.34-6485_34-6481del
NM_001318512.2:c.33+7187_33+7191del	NP_001305441.1:n.33+7187_33+7191del
NM_001318515.2:c.34-6485_34-6481del	NP_001305444.1:n.34-6485_34-6481del
NM_001318516.2:c.34-6485_34-6481del	NP_001305445.1:n.34-6485_34-6481del
NM_001318514.2:c.-175+305_-175+309del	NP_001305443.1:n.-175+305_-175+309del