Canonical Allele Identifier: CA1998772414

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253911_108253912delinsGT , CM000673.2:g.108253911_108253912delinsGT	GRCh38
NC_000011.9:g.108124638_108124639delinsGT , CM000673.1:g.108124638_108124639delinsGT	GRCh37
NC_000011.8:g.107629848_107629849delinsGT	NCBI36
NG_009830.1:g.36080_36081delinsGT , LRG_135:g.36080_36081delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1996_1997delinsGT	ENSP00000388058.2:p.Val666=
ENST00000713593.1:c.*1467_*1468delinsGT	ENSP00000518889.1:n.*1467_*1468delinsGT
ENST00000278616.9:c.1996_1997delinsGT	ENSP00000278616.4:p.Val666=
ENST00000682516.1:n.2130_2131delinsGT
ENST00000683174.1:n.2146_2147delinsGT
ENST00000683605.1:n.1491_1492delinsGT
ENST00000684037.1:c.*931_*932delinsGT	ENSP00000508245.1:n.*931_*932delinsGT
ENST00000684061.1:n.2130_2131delinsGT
ENST00000527805.6:c.1996_1997delinsGT	ENSP00000435747.2:p.Val666=
ENST00000675595.1:c.1831_1832delinsGT	ENSP00000502563.1:p.Val611=
ENST00000675843.1:c.1996_1997delinsGT MANE Select	ENSP00000501606.1:p.Val666=
ENST00000278616.8:c.1996_1997delinsGT	ENSP00000278616.4:p.Val666=
ENST00000452508.6:c.1996_1997delinsGT	ENSP00000388058.2:p.Val666=
ENST00000525012.5:n.173_174delinsGT
ENST00000527805.5:c.1996_1997delinsGT	ENSP00000435747.1:p.Val666=
ENST00000533526.1:n.149_150delinsGT
NM_000051.3:c.1996_1997delinsGT , LRG_135t1:c.1996_1997delinsGT	NP_000042.3:p.Val666=
XM_005271561.3:c.1996_1997delinsGT	XP_005271618.2:p.Val666=
XM_005271562.3:c.1996_1997delinsGT	XP_005271619.2:p.Val666=
XM_006718843.2:c.1996_1997delinsGT	XP_006718906.1:p.Val666=
XM_011542840.1:c.1996_1997delinsGT	XP_011541142.1:p.Val666=
XM_011542841.1:c.1996_1997delinsGT	XP_011541143.1:p.Val666=
XM_011542842.1:c.1831_1832delinsGT	XP_011541144.1:p.Val611=
XM_011542843.1:c.1996_1997delinsGT	XP_011541145.1:p.Val666=
XM_011542844.1:c.952_953delinsGT	XP_011541146.1:p.Val318=
XM_011542845.1:c.688_689delinsGT	XP_011541147.1:p.Val230=
XM_011542846.1:c.1996_1997delinsGT	XP_011541148.1:p.Val666=
NM_001351834.1:c.1996_1997delinsGT	NP_001338763.1:p.Val666=
XM_005271562.5:c.1996_1997delinsGT	XP_005271619.2:p.Val666=
XM_006718843.4:c.1996_1997delinsGT	XP_006718906.1:p.Val666=
XM_011542840.3:c.1996_1997delinsGT	XP_011541142.1:p.Val666=
XM_011542842.3:c.1831_1832delinsGT	XP_011541144.1:p.Val611=
XM_011542843.2:c.1996_1997delinsGT	XP_011541145.1:p.Val666=
XM_011542844.3:c.952_953delinsGT	XP_011541146.1:p.Val318=
XM_011542845.2:c.688_689delinsGT	XP_011541147.1:p.Val230=
XM_017017789.2:c.1996_1997delinsGT	XP_016873278.1:p.Val666=
XM_017017790.2:c.1996_1997delinsGT	XP_016873279.1:p.Val666=
XM_017017791.1:c.1996_1997delinsGT	XP_016873280.1:p.Val666=
XM_017017792.2:c.1996_1997delinsGT	XP_016873281.1:p.Val666=
XR_002957150.1:n.2729_2730delinsGT
NM_001351834.2:c.1996_1997delinsGT	NP_001338763.1:p.Val666=
NM_000051.4:c.1996_1997delinsGT MANE Select	NP_000042.3:p.Val666=