Canonical Allele Identifier: CA916080444

Gene: ATM

Linked Data

• ClinVar Variation Id: 842868
• ClinVar RCV Id: RCV001045363

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251897_108260359del , CM000673.2:g.108251897_108260359del	GRCh38
NC_000011.9:g.108122624_108131086del , CM000673.1:g.108122624_108131086del	GRCh37
NC_000011.8:g.107627834_107636296del	NCBI36
NG_009830.1:g.34066_42528del , LRG_135:g.34066_42528del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1668_2466+1284del
ENST00000713593.1:c.*1139_*1937+1284del
ENST00000278616.9:c.1668_2466+1284del
ENST00000682516.1:n.1802_2600+1284del
ENST00000683174.1:n.1818_2616+1284del
ENST00000683605.1:n.1163_1961+1284del
ENST00000684037.1:c.*603_*1401+1284del
ENST00000527805.6:c.1668_2466+1284del
ENST00000675595.1:c.1503_2301+1284del
ENST00000675843.1:c.1668_2466+1284del
ENST00000278616.8:c.1668_2466+1284del
ENST00000452508.6:c.1668_2466+1284del
ENST00000527805.5:c.1668_2466+1284del
NM_000051.3:c.1668_2466+1284del , LRG_135t1:c.1668_2466+1284del
XM_005271561.3:c.1668_2466+1284del
XM_005271562.3:c.1668_2466+1284del
XM_006718843.2:c.1668_2466+1284del
XM_011542840.1:c.1668_2466+1284del
XM_011542841.1:c.1668_2466+1284del
XM_011542842.1:c.1503_2301+1284del
XM_011542843.1:c.1668_2466+1284del
XM_011542844.1:c.624_1422+1284del
XM_011542845.1:c.360_1158+1284del
XM_011542846.1:c.1668_2466+1284del
NM_001351834.1:c.1668_2466+1284del
XM_005271562.5:c.1668_2466+1284del
XM_006718843.4:c.1668_2466+1284del
XM_011542840.3:c.1668_2466+1284del
XM_011542842.3:c.1503_2301+1284del
XM_011542843.2:c.1668_2466+1284del
XM_011542844.3:c.624_1422+1284del
XM_011542845.2:c.360_1158+1284del
XM_017017789.2:c.1668_2466+1284del
XM_017017790.2:c.1668_2466+1284del
XM_017017791.1:c.1668_2466+1284del
XM_017017792.2:c.1668_2466+1284del
XR_002957150.1:n.2401_3199+1284del
NM_001351834.2:c.1668_2466+1284del
NM_000051.4:c.1668_2466+1284del