Canonical Allele Identifier: CA2695215349

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243953_108243974del , CM000673.2:g.108243953_108243974del	GRCh38
NC_000011.9:g.108114680_108114701del , CM000673.1:g.108114680_108114701del	GRCh37
NC_000011.8:g.107619890_107619911del	NCBI36
NG_009830.1:g.26122_26143del , LRG_135:g.26122_26143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.497_518del
ENST00000713593.1:c.497-22_497-1del	ENSP00000518889.1:n.497-22_497-1del
ENST00000278616.9:c.497_518del
ENST00000682430.1:n.596_617del
ENST00000682516.1:n.631_652del
ENST00000682956.1:n.631_652del
ENST00000683100.1:n.2175_2196del
ENST00000683174.1:n.647_668del
ENST00000684037.1:c.497_518del
ENST00000684061.1:n.631_652del
ENST00000684179.1:n.466_487del
ENST00000527805.6:c.497_518del
ENST00000675595.1:c.332_353del
ENST00000675843.1:c.497_518del
ENST00000278616.8:c.497_518del
ENST00000452508.6:c.497_518del
ENST00000527805.5:c.497_518del
ENST00000527891.5:c.332_353del
NM_000051.3:c.497_518del , LRG_135t1:c.497_518del
XM_005271561.3:c.497_518del
XM_005271562.3:c.497_518del
XM_006718843.2:c.497_518del
XM_011542840.1:c.497_518del
XM_011542841.1:c.497_518del
XM_011542842.1:c.332_353del
XM_011542843.1:c.497_518del
XM_011542844.1:c.-526-22_-526-1del	XP_011541146.1:n.-526-22_-526-1del
XM_011542846.1:c.497_518del
NM_001351834.1:c.497_518del
XM_005271562.5:c.497_518del
XM_006718843.4:c.497_518del
XM_011542840.3:c.497_518del
XM_011542842.3:c.332_353del
XM_011542843.2:c.497_518del
XM_011542844.3:c.-526-22_-526-1del	XP_011541146.1:n.-526-22_-526-1del
XM_017017789.2:c.497_518del
XM_017017790.2:c.497_518del
XM_017017791.1:c.497_518del
XM_017017792.2:c.497_518del
XR_002957150.1:n.1230_1251del
NM_001351834.2:c.497_518del
NM_000051.4:c.497_518del