Canonical Allele Identifier: CA2580083141

Gene: ATM

Linked Data

• ClinVar Variation Id: 1747723
• ClinVar RCV Id: RCV002349775
• gnomAD v4: 11-108244000-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244002dup , CM000673.2:g.108244002dup	GRCh38
NC_000011.9:g.108114729dup , CM000673.1:g.108114729dup	GRCh37
NC_000011.8:g.107619939dup	NCBI36
NG_009830.1:g.26171dup , LRG_135:g.26171dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.546dup	ENSP00000388058.2:p.His183SerfsTer2
ENST00000713593.1:c.*17dup	ENSP00000518889.1:n.*17dup
ENST00000278616.9:c.546dup	ENSP00000278616.4:p.His183SerfsTer2
ENST00000682430.1:n.645dup
ENST00000682516.1:n.680dup
ENST00000682956.1:n.680dup
ENST00000683100.1:n.2224dup
ENST00000683174.1:n.696dup
ENST00000683605.1:n.41dup
ENST00000684037.1:c.546dup	ENSP00000508245.1:p.His183SerfsTer2
ENST00000684061.1:n.680dup
ENST00000684179.1:n.515dup
ENST00000527805.6:c.546dup	ENSP00000435747.2:p.His183SerfsTer2
ENST00000675595.1:c.381dup	ENSP00000502563.1:p.His128SerfsTer2
ENST00000675843.1:c.546dup MANE Select	ENSP00000501606.1:p.His183SerfsTer2
ENST00000278616.8:c.546dup	ENSP00000278616.4:p.His183SerfsTer2
ENST00000452508.6:c.546dup	ENSP00000388058.2:p.His183SerfsTer2
ENST00000527805.5:c.546dup	ENSP00000435747.1:p.His183SerfsTer2
ENST00000527891.5:c.381dup	ENSP00000433955.1:p.His128SerfsTer2
NM_000051.3:c.546dup , LRG_135t1:c.546dup	NP_000042.3:p.His183SerfsTer2
XM_005271561.3:c.546dup	XP_005271618.2:p.His183SerfsTer2
XM_005271562.3:c.546dup	XP_005271619.2:p.His183SerfsTer2
XM_006718843.2:c.546dup	XP_006718906.1:p.His183SerfsTer2
XM_011542840.1:c.546dup	XP_011541142.1:p.His183SerfsTer2
XM_011542841.1:c.546dup	XP_011541143.1:p.His183SerfsTer2
XM_011542842.1:c.381dup	XP_011541144.1:p.His128SerfsTer2
XM_011542843.1:c.546dup	XP_011541145.1:p.His183SerfsTer2
XM_011542844.1:c.-499dup	XP_011541146.1:n.-499dup
XM_011542846.1:c.546dup	XP_011541148.1:p.His183SerfsTer2
NM_001351834.1:c.546dup	NP_001338763.1:p.His183SerfsTer2
XM_005271562.5:c.546dup	XP_005271619.2:p.His183SerfsTer2
XM_006718843.4:c.546dup	XP_006718906.1:p.His183SerfsTer2
XM_011542840.3:c.546dup	XP_011541142.1:p.His183SerfsTer2
XM_011542842.3:c.381dup	XP_011541144.1:p.His128SerfsTer2
XM_011542843.2:c.546dup	XP_011541145.1:p.His183SerfsTer2
XM_011542844.3:c.-499dup	XP_011541146.1:n.-499dup
XM_017017789.2:c.546dup	XP_016873278.1:p.His183SerfsTer2
XM_017017790.2:c.546dup	XP_016873279.1:p.His183SerfsTer2
XM_017017791.1:c.546dup	XP_016873280.1:p.His183SerfsTer2
XM_017017792.2:c.546dup	XP_016873281.1:p.His183SerfsTer2
XR_002957150.1:n.1279dup
NM_001351834.2:c.546dup	NP_001338763.1:p.His183SerfsTer2
NM_000051.4:c.546dup MANE Select	NP_000042.3:p.His183SerfsTer2