Canonical Allele Identifier: CA3260676583
Community Standard Title: NC_000011.10:g.108257471_108257616del
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108257471_108257616del , CM000673.2:g.108257471_108257616del GRCh38
NC_000011.9:g.108128198_108128343del , CM000673.1:g.108128198_108128343del GRCh37
NC_000011.8:g.107633408_107633553del NCBI36
NG_009830.1:g.39640_39785del , LRG_135:g.39640_39785del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.3:c.2251-10_2376+10del , LRG_135t1:c.2251-10_2376+10del
NM_000051.4:c.2251-10_2376+10del
NM_001351834.1:c.2251-10_2376+10del
NM_001351834.2:c.2251-10_2376+10del
ENST00000278616.8:c.2251-10_2376+10del
ENST00000278616.9:c.2251-10_2376+10del
ENST00000452508.6:c.2251-10_2376+10del
ENST00000452508.7:c.2251-10_2376+10del
ENST00000527805.5:c.2251-10_2376+10del
ENST00000527805.6:c.2251-10_2376+10del
ENST00000675595.1:c.2086-10_2211+10del
ENST00000675843.1:c.2251-10_2376+10del
ENST00000682516.1:n.2385-10_2510+10del
ENST00000683174.1:n.2401-10_2526+10del
ENST00000683605.1:n.1746-10_1871+10del
ENST00000684037.1:c.*1186-10_*1311+10del
ENST00000713593.1:c.*1722-10_*1847+10del
XM_005271561.3:c.2251-10_2376+10del
XM_005271562.3:c.2251-10_2376+10del
XM_005271562.5:c.2251-10_2376+10del
XM_006718843.2:c.2251-10_2376+10del
XM_006718843.4:c.2251-10_2376+10del
XM_011542840.1:c.2251-10_2376+10del
XM_011542840.3:c.2251-10_2376+10del
XM_011542841.1:c.2251-10_2376+10del
XM_011542842.1:c.2086-10_2211+10del
XM_011542842.3:c.2086-10_2211+10del
XM_011542843.1:c.2251-10_2376+10del
XM_011542843.2:c.2251-10_2376+10del
XM_011542844.1:c.1207-10_1332+10del
XM_011542844.3:c.1207-10_1332+10del
XM_011542845.1:c.943-10_1068+10del
XM_011542845.2:c.943-10_1068+10del
XM_011542846.1:c.2251-10_2376+10del
XM_017017789.2:c.2251-10_2376+10del
XM_017017790.2:c.2251-10_2376+10del
XM_017017791.1:c.2251-10_2376+10del
XM_017017792.2:c.2251-10_2376+10del
XR_002957150.1:n.2984-10_3109+10del