Canonical Allele Identifier: CA658656183

Gene: ATM

Linked Data

• ClinVar Variation Id: 482732
• ClinVar RCV Id: RCV000566640
• dbSNP Id: rs1555073243
• MyVariant Identifiers: chr11:g.108124620dup (hg19) ; chr11:g.108253893dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253893dup , CM000673.2:g.108253893dup	GRCh38
NC_000011.9:g.108124620dup , CM000673.1:g.108124620dup	GRCh37
NC_000011.8:g.107629830dup	NCBI36
NG_009830.1:g.36062dup , LRG_135:g.36062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1978dup	ENSP00000388058.2:p.Met660AsnfsTer?
ENST00000713593.1:c.*1449dup	ENSP00000518889.1:n.*1449dup
ENST00000278616.9:c.1978dup	ENSP00000278616.4:p.Met660AsnfsTer?
ENST00000682516.1:n.2112dup
ENST00000683174.1:n.2128dup
ENST00000683605.1:n.1473dup
ENST00000684037.1:c.*913dup	ENSP00000508245.1:n.*913dup
ENST00000684061.1:n.2112dup
ENST00000527805.6:c.1978dup	ENSP00000435747.2:p.Met660AsnfsTer?
ENST00000675595.1:c.1813dup	ENSP00000502563.1:p.Met605AsnfsTer?
ENST00000675843.1:c.1978dup MANE Select	ENSP00000501606.1:p.Met660AsnfsTer?
ENST00000278616.8:c.1978dup	ENSP00000278616.4:p.Met660AsnfsTer?
ENST00000452508.6:c.1978dup	ENSP00000388058.2:p.Met660AsnfsTer?
ENST00000525012.5:n.155dup
ENST00000527805.5:c.1978dup	ENSP00000435747.1:p.Met660AsnfsTer?
ENST00000533526.1:n.131dup
NM_000051.3:c.1978dup , LRG_135t1:c.1978dup	NP_000042.3:p.Met660AsnfsTer?
XM_005271561.3:c.1978dup	XP_005271618.2:p.Met660AsnfsTer?
XM_005271562.3:c.1978dup	XP_005271619.2:p.Met660AsnfsTer?
XM_006718843.2:c.1978dup	XP_006718906.1:p.Met660AsnfsTer?
XM_011542840.1:c.1978dup	XP_011541142.1:p.Met660AsnfsTer?
XM_011542841.1:c.1978dup	XP_011541143.1:p.Met660AsnfsTer?
XM_011542842.1:c.1813dup	XP_011541144.1:p.Met605AsnfsTer?
XM_011542843.1:c.1978dup	XP_011541145.1:p.Met660AsnfsTer?
XM_011542844.1:c.934dup	XP_011541146.1:p.Met312AsnfsTer?
XM_011542845.1:c.670dup	XP_011541147.1:p.Met224AsnfsTer?
XM_011542846.1:c.1978dup	XP_011541148.1:p.Met660AsnfsTer?
NM_001351834.1:c.1978dup	NP_001338763.1:p.Met660AsnfsTer?
XM_005271562.5:c.1978dup	XP_005271619.2:p.Met660AsnfsTer?
XM_006718843.4:c.1978dup	XP_006718906.1:p.Met660AsnfsTer?
XM_011542840.3:c.1978dup	XP_011541142.1:p.Met660AsnfsTer?
XM_011542842.3:c.1813dup	XP_011541144.1:p.Met605AsnfsTer?
XM_011542843.2:c.1978dup	XP_011541145.1:p.Met660AsnfsTer?
XM_011542844.3:c.934dup	XP_011541146.1:p.Met312AsnfsTer?
XM_011542845.2:c.670dup	XP_011541147.1:p.Met224AsnfsTer?
XM_017017789.2:c.1978dup	XP_016873278.1:p.Met660AsnfsTer?
XM_017017790.2:c.1978dup	XP_016873279.1:p.Met660AsnfsTer?
XM_017017791.1:c.1978dup	XP_016873280.1:p.Met660AsnfsTer?
XM_017017792.2:c.1978dup	XP_016873281.1:p.Met660AsnfsTer?
XR_002957150.1:n.2711dup
NM_001351834.2:c.1978dup	NP_001338763.1:p.Met660AsnfsTer?
NM_000051.4:c.1978dup MANE Select	NP_000042.3:p.Met660AsnfsTer?