Canonical Allele Identifier: CA1139662230

Gene: ATM

Linked Data

• ClinVar Variation Id: 946575
• ClinVar RCV Id: RCV001217465

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108283331_108289728del , CM000673.2:g.108283331_108289728del	GRCh38
NC_000011.9:g.108154058_108160455del , CM000673.1:g.108154058_108160455del	GRCh37
NC_000011.8:g.107659268_107665665del	NCBI36
NG_009830.1:g.65500_71897del , LRG_135:g.65500_71897del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.3746+452_4363del
ENST00000713593.1:c.*3217+452_*3834del
ENST00000278616.9:c.3746+452_4363del
ENST00000683174.1:n.3896+452_4513del
ENST00000527805.6:c.3746+452_4363del
ENST00000675595.1:c.3581+452_4198del
ENST00000675843.1:c.3746+452_4363del
ENST00000278616.8:c.3746+452_4363del
ENST00000452508.6:c.3746+452_4363del
NM_000051.3:c.3746+452_4363del , LRG_135t1:c.3746+452_4363del
XM_005271561.3:c.3746+452_4363del
XM_005271562.3:c.3746+452_4363del
XM_006718843.2:c.3746+452_4363del
XM_011542840.1:c.3746+452_4363del
XM_011542841.1:c.3746+452_4363del
XM_011542842.1:c.3581+452_4198del
XM_011542843.1:c.3746+452_4363del
XM_011542844.1:c.2702+452_3319del
XM_011542845.1:c.2438+452_3055del
XM_011542846.1:c.3746+452_4363del
NM_001351834.1:c.3746+452_4363del
XM_005271562.5:c.3746+452_4363del
XM_006718843.4:c.3746+452_4363del
XM_011542840.3:c.3746+452_4363del
XM_011542842.3:c.3581+452_4198del
XM_011542843.2:c.3746+452_4363del
XM_011542844.3:c.2702+452_3319del
XM_011542845.2:c.2438+452_3055del
XM_017017789.2:c.3746+452_4363del
XM_017017790.2:c.3746+452_4363del
XM_017017791.1:c.3746+452_4363del
XM_017017792.2:c.3746+452_4363del
XR_002957150.1:n.4479+452_5096del
NM_001351834.2:c.3746+452_4363del
NM_000051.4:c.3746+452_4363del