Canonical Allele Identifier: CA597439511

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 1002892
• ClinVar RCV Id: RCV001299376
• dbSNP Id: rs1392922443
• gnomAD v2: 11-6631080-A-AGGCCACAAGCTCACTCCTGGCCCAGGCCCCAAAAGCCCTTTGCCTATCT
• gnomAD v3: 11-6609849-A-AGGCCACAAGCTCACTCCTGGCCCAGGCCCCAAAAGCCCTTTGCCTATCT
• gnomAD v4: 11-6609849-A-AGGCCACAAGCTCACTCCTGGCCCAGGCCCCAAAAGCCCTTTGCCTATCT
• MyVariant Identifiers: chr11:g.6631080_6631081insGGCCACAAGCTCACTCCTGGCCCAGGCCCCAAAAGCCCTTTGCCTATCT (hg19) ; chr11:g.6609849_6609850insGGCCACAAGCTCACTCCTGGCCCAGGCCCCAAAAGCCCTTTGCCTATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6609850_6609898dup , CM000673.2:g.6609850_6609898dup	GRCh38
NC_000011.9:g.6631081_6631129dup , CM000673.1:g.6631081_6631129dup	GRCh37
NC_000011.8:g.6587657_6587705dup	NCBI36
NG_029702.1:g.11118_11166dup , LRG_444:g.11118_11166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.978+5_979-38dup (ILK) MANE Select	ENSP00000299421.4:n.978+5_979-38dup
ENST00000299424.9:c.*1024_*1072dup (TAF10) MANE Select	ENSP00000299424.4:n.*1024_*1072dup
ENST00000299421.8:c.978+5_979-38dup (ILK)	ENSP00000299421.3:n.978+5_979-38dup
ENST00000396751.6:c.978+5_979-38dup (ILK)	ENSP00000379975.2:n.978+5_979-38dup
ENST00000420936.6:c.978+5_979-38dup (ILK)	ENSP00000403487.2:n.978+5_979-38dup
ENST00000526318.2:c.328-753_328-705dup (ILK)	ENSP00000480597.1:n.328-753_328-705dup
ENST00000526711.5:c.*689+5_*690-38dup (ILK)	ENSP00000479932.1:n.*689+5_*690-38dup
ENST00000528784.5:n.851+5_852-38dup (ILK)
ENST00000528995.5:c.795+5_796-38dup (ILK)	ENSP00000435323.1:n.795+5_796-38dup
ENST00000530016.5:n.1315+5_1316-38dup (ILK)
ENST00000532063.5:c.576+5_577-38dup (ILK)	ENSP00000434492.2:n.576+5_577-38dup
ENST00000537806.5:c.1071+5_1072-38dup (ILK)	ENSP00000439606.2:n.1071+5_1072-38dup
ENST00000616342.1:n.1790_1838dup (TAF10)
NM_001014794.2:c.978+5_979-38dup (ILK)	NP_001014794.1:n.978+5_979-38dup
NM_001014795.2:c.978+5_979-38dup (ILK)	NP_001014795.1:n.978+5_979-38dup
NM_001278441.1:c.795+5_796-38dup (ILK)	NP_001265370.1:n.795+5_796-38dup
NM_001278442.1:c.576+5_577-38dup (ILK)	NP_001265371.1:n.576+5_577-38dup
NM_004517.3:c.978+5_979-38dup (ILK)	NP_004508.1:n.978+5_979-38dup
XM_005252904.3:c.978+5_979-38dup (ILK)	XP_005252961.1:n.978+5_979-38dup
XM_005252905.1:c.576+5_577-38dup (ILK)	XP_005252962.1:n.576+5_577-38dup
XM_011520065.1:c.978+5_979-38dup (ILK)	XP_011518367.1:n.978+5_979-38dup
XM_005252904.5:c.978+5_979-38dup (ILK)	XP_005252961.1:n.978+5_979-38dup
XM_005252905.3:c.576+5_577-38dup (ILK)	XP_005252962.1:n.576+5_577-38dup
XM_017017672.1:c.825+5_826-38dup (ILK)	XP_016873161.1:n.825+5_826-38dup
XM_024448494.1:c.1071+5_1072-38dup (ILK)	XP_024304262.1:n.1071+5_1072-38dup
XM_024448495.1:c.1071+5_1072-38dup (ILK)	XP_024304263.1:n.1071+5_1072-38dup
XM_024448496.1:c.1071+5_1072-38dup (ILK)	XP_024304264.1:n.1071+5_1072-38dup
XM_024448497.1:c.1071+5_1072-38dup (ILK)	XP_024304265.1:n.1071+5_1072-38dup
XM_024448498.1:c.825+5_826-38dup (ILK)	XP_024304266.1:n.825+5_826-38dup
XM_024448499.1:c.825+5_826-38dup (ILK)	XP_024304267.1:n.825+5_826-38dup
XM_024448500.1:c.669+5_670-38dup (ILK)	XP_024304268.1:n.669+5_670-38dup
NM_006284.4:c.*1024_*1072dup (TAF10) MANE Select	NP_006275.1:n.*1024_*1072dup
NM_001014794.3:c.978+5_979-38dup (ILK)	NP_001014794.1:n.978+5_979-38dup
NM_001014795.3:c.978+5_979-38dup (ILK)	NP_001014795.1:n.978+5_979-38dup
NM_001278441.2:c.795+5_796-38dup (ILK)	NP_001265370.1:n.795+5_796-38dup
NM_004517.4:c.978+5_979-38dup (ILK) MANE Select	NP_004508.1:n.978+5_979-38dup
NM_001278442.2:c.576+5_577-38dup (ILK)	NP_001265371.1:n.576+5_577-38dup