Canonical Allele Identifier: CA2580083187

Gene: ATM

Linked Data

• ClinVar Variation Id: 2108694
• ClinVar RCV Id: RCV003037985

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287610dup , CM000673.2:g.108287610dup	GRCh38
NC_000011.9:g.108158337dup , CM000673.1:g.108158337dup	GRCh37
NC_000011.8:g.107663547dup	NCBI36
NG_009830.1:g.69779dup , LRG_135:g.69779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4004dup	ENSP00000388058.2:p.Leu1335PhefsTer4
ENST00000713593.1:c.*3475dup	ENSP00000518889.1:n.*3475dup
ENST00000278616.9:c.4004dup	ENSP00000278616.4:p.Leu1335PhefsTer4
ENST00000533733.6:n.1267dup
ENST00000683174.1:n.4154dup
ENST00000527805.6:c.4004dup	ENSP00000435747.2:p.Leu1335PhefsTer4
ENST00000675595.1:c.3839dup	ENSP00000502563.1:p.Leu1280PhefsTer4
ENST00000675843.1:c.4004dup MANE Select	ENSP00000501606.1:p.Leu1335PhefsTer4
ENST00000278616.8:c.4004dup	ENSP00000278616.4:p.Leu1335PhefsTer4
ENST00000452508.6:c.4004dup	ENSP00000388058.2:p.Leu1335PhefsTer4
ENST00000524792.5:n.219dup
ENST00000527805.5:c.4004dup	ENSP00000435747.1:p.Leu1335PhefsTer4
ENST00000531525.2:c.11dup	ENSP00000434327.2:p.Leu4PhefsTer4
ENST00000533733.5:n.433dup
NM_000051.3:c.4004dup , LRG_135t1:c.4004dup	NP_000042.3:p.Leu1335PhefsTer4
XM_005271561.3:c.4004dup	XP_005271618.2:p.Leu1335PhefsTer4
XM_005271562.3:c.4004dup	XP_005271619.2:p.Leu1335PhefsTer4
XM_006718843.2:c.4004dup	XP_006718906.1:p.Leu1335PhefsTer4
XM_006718845.1:c.-41dup	XP_006718908.1:n.-41dup
XM_011542840.1:c.4004dup	XP_011541142.1:p.Leu1335PhefsTer4
XM_011542841.1:c.4004dup	XP_011541143.1:p.Leu1335PhefsTer4
XM_011542842.1:c.3839dup	XP_011541144.1:p.Leu1280PhefsTer4
XM_011542843.1:c.4004dup	XP_011541145.1:p.Leu1335PhefsTer4
XM_011542844.1:c.2960dup	XP_011541146.1:p.Leu987PhefsTer4
XM_011542845.1:c.2696dup	XP_011541147.1:p.Leu899PhefsTer4
XM_011542846.1:c.4004dup	XP_011541148.1:p.Leu1335PhefsTer4
NM_001351834.1:c.4004dup	NP_001338763.1:p.Leu1335PhefsTer4
XM_005271562.5:c.4004dup	XP_005271619.2:p.Leu1335PhefsTer4
XM_006718843.4:c.4004dup	XP_006718906.1:p.Leu1335PhefsTer4
XM_006718845.2:c.-41dup	XP_006718908.1:n.-41dup
XM_011542840.3:c.4004dup	XP_011541142.1:p.Leu1335PhefsTer4
XM_011542842.3:c.3839dup	XP_011541144.1:p.Leu1280PhefsTer4
XM_011542843.2:c.4004dup	XP_011541145.1:p.Leu1335PhefsTer4
XM_011542844.3:c.2960dup	XP_011541146.1:p.Leu987PhefsTer4
XM_011542845.2:c.2696dup	XP_011541147.1:p.Leu899PhefsTer4
XM_017017789.2:c.4004dup	XP_016873278.1:p.Leu1335PhefsTer4
XM_017017790.2:c.4004dup	XP_016873279.1:p.Leu1335PhefsTer4
XM_017017791.1:c.4004dup	XP_016873280.1:p.Leu1335PhefsTer4
XM_017017792.2:c.4004dup	XP_016873281.1:p.Leu1335PhefsTer4
XR_002957150.1:n.4737dup
NM_001351834.2:c.4004dup	NP_001338763.1:p.Leu1335PhefsTer4
NM_000051.4:c.4004dup MANE Select	NP_000042.3:p.Leu1335PhefsTer4