Canonical Allele Identifier: CA586296

Gene: TARDBP

Linked Data

• ClinVar Variation Id: 291733
• ClinVar RCV Id: RCV000265462 ; RCV000360165
• dbSNP Id: rs575825467
• ExAC: 1:11073760 CTT / C
• gnomAD v2: 1-11073760-CTT-C
• gnomAD v3: 1-11013703-CTT-C
• gnomAD v4: 1-11013703-CTT-C
• MyVariant Identifiers: chr1:g.11073763_11073764del (hg19) ; chr1:g.11073761_11073762del (hg19) ; chr1:g.11013706_11013707del (hg38) ; chr1:g.11013704_11013705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11013706_11013707del , CM000663.2:g.11013706_11013707del	GRCh38
NC_000001.10:g.11073763_11073764del , CM000663.1:g.11073763_11073764del	GRCh37
NC_000001.9:g.10996350_10996351del	NCBI36
NG_008734.1:g.6085_6086del , LRG_659:g.6085_6086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240185.8:c.-12-10_-12-9del MANE Select	ENSP00000240185.4:n.-12-10_-12-9del
ENST00000639083.1:c.-12-10_-12-9del	ENSP00000491203.1:n.-12-10_-12-9del
ENST00000639599.1:c.-12-10_-12-9del	ENSP00000492196.1:n.-12-10_-12-9del
ENST00000240185.7:c.-12-10_-12-9del	ENSP00000240185.3:n.-12-10_-12-9del
ENST00000439080.6:c.-12-10_-12-9del	ENSP00000404666.3:n.-12-10_-12-9del
ENST00000472476.5:c.-12-10_-12-9del	ENSP00000465080.1:n.-12-10_-12-9del
ENST00000473118.5:c.-12-10_-12-9del	ENSP00000465240.1:n.-12-10_-12-9del
ENST00000476201.5:c.-12-10_-12-9del	ENSP00000466842.2:n.-12-10_-12-9del
ENST00000613864.4:n.91-10_91-9del
ENST00000614757.4:c.-12-10_-12-9del	ENSP00000481867.1:n.-12-10_-12-9del
ENST00000621715.4:c.-12-10_-12-9del	ENSP00000480690.1:n.-12-10_-12-9del
ENST00000629725.2:c.-12-10_-12-9del	ENSP00000486989.1:n.-12-10_-12-9del
NM_007375.3:c.-12-10_-12-9del , LRG_659t1:c.-12-10_-12-9del	NP_031401.1:n.-12-10_-12-9del
XR_946596.1:n.111-10_111-9del
XR_946597.1:n.111-10_111-9del
XM_017000863.2:c.-12-10_-12-9del	XP_016856352.1:n.-12-10_-12-9del
XM_017000864.2:c.-12-10_-12-9del	XP_016856353.1:n.-12-10_-12-9del
XM_017000865.2:c.-12-10_-12-9del	XP_016856354.1:n.-12-10_-12-9del
XM_017000866.2:c.-12-10_-12-9del	XP_016856355.1:n.-12-10_-12-9del
XM_017000867.2:c.-12-10_-12-9del	XP_016856356.1:n.-12-10_-12-9del
XM_017000868.2:c.-12-10_-12-9del	XP_016856357.1:n.-12-10_-12-9del
NM_007375.4:c.-12-10_-12-9del MANE Select	NP_031401.1:n.-12-10_-12-9del