Canonical Allele Identifier: CA2573053416

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1332422
• ClinVar RCV Id: RCV001805468 ; RCV003336441
• dbSNP Id: rs2086682689

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335059dup , CM000673.2:g.108335059dup	GRCh38
NC_000011.9:g.108205786dup , CM000673.1:g.108205786dup	GRCh37
NC_000011.8:g.107710996dup	NCBI36
NG_009830.1:g.117228dup , LRG_135:g.117228dup
NG_054724.1:g.139778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8101dup (ATM)	ENSP00000388058.2:p.Ile2701AsnfsTer17
ENST00000713593.1:c.*7572dup (ATM)	ENSP00000518889.1:n.*7572dup
ENST00000278616.9:c.8101dup (ATM)	ENSP00000278616.4:p.Ile2701AsnfsTer17
ENST00000525056.2:n.2520dup (ATM)
ENST00000638786.2:n.799dup (ATM)
ENST00000682286.1:n.2858dup (ATM)
ENST00000682302.1:n.2519dup (ATM)
ENST00000683174.1:n.9585dup (ATM)
ENST00000683524.1:n.3325dup (ATM)
ENST00000684152.1:n.3517dup (ATM)
ENST00000684180.1:n.575dup (ATM)
ENST00000684447.1:n.4594dup (ATM)
ENST00000527805.6:c.*3165dup (ATM)	ENSP00000435747.2:n.*3165dup
ENST00000675595.1:c.*3236dup (ATM)	ENSP00000502563.1:n.*3236dup
ENST00000675843.1:c.8101dup (ATM) MANE Select	ENSP00000501606.1:p.Ile2701AsnfsTer17
ENST00000278616.8:c.8101dup (ATM)	ENSP00000278616.4:p.Ile2701AsnfsTer17
ENST00000452508.6:c.8101dup (ATM)	ENSP00000388058.2:p.Ile2701AsnfsTer17
ENST00000524755.5:c.299+165dup (C11orf65)
ENST00000524792.5:n.4316dup (ATM)
ENST00000525056.1:n.298dup (ATM)
ENST00000525729.5:c.641-25984dup (C11orf65)	ENSP00000433395.1:n.641-25984dup
ENST00000527531.5:c.*1269+165dup (C11orf65)	ENSP00000431706.1:n.*1269+165dup
ENST00000533979.5:n.313dup (ATM)
ENST00000615746.4:c.*1269+165dup (C11orf65)	ENSP00000483537.1:n.*1269+165dup
NM_000051.3:c.8101dup , LRG_135t1:c.8101dup (ATM)	NP_000042.3:p.Ile2701AsnfsTer17
XM_005271414.3:c.*38+165dup (C11orf65)	XP_005271471.1:n.*38+165dup
XM_005271415.3:c.804+165dup (C11orf65)	XP_005271472.1:n.804+165dup
XM_005271561.3:c.8101dup (ATM)	XP_005271618.2:p.Ile2701AsnfsTer17
XM_005271562.3:c.8101dup (ATM)	XP_005271619.2:p.Ile2701AsnfsTer17
XM_006718843.2:c.8101dup (ATM)	XP_006718906.1:p.Ile2701AsnfsTer17
XM_006718845.1:c.4057dup (ATM)	XP_006718908.1:p.Ile1353AsnfsTer17
XM_011542840.1:c.8101dup (ATM)	XP_011541142.1:p.Ile2701AsnfsTer17
XM_011542841.1:c.8101dup (ATM)	XP_011541143.1:p.Ile2701AsnfsTer17
XM_011542842.1:c.7936dup (ATM)	XP_011541144.1:p.Ile2646AsnfsTer17
XM_011542843.1:c.8101dup (ATM)	XP_011541145.1:p.Ile2701AsnfsTer17
XM_011542844.1:c.7057dup (ATM)	XP_011541146.1:p.Ile2353AsnfsTer17
XM_011542845.1:c.6793dup (ATM)	XP_011541147.1:p.Ile2265AsnfsTer17
XM_011542847.1:c.3172dup (ATM)	XP_011541149.1:p.Ile1058AsnfsTer17
NM_001330368.1:c.641-25984dup (C11orf65)	NP_001317297.1:n.641-25984dup
NM_001351110.1:c.*38+165dup (C11orf65)	NP_001338039.1:n.*38+165dup
NM_001351834.1:c.8101dup (ATM)	NP_001338763.1:p.Ile2701AsnfsTer17
NR_147053.2:n.2374+165dup (C11orf65)
XM_005271414.4:c.*38+165dup (C11orf65)	XP_005271471.1:n.*38+165dup
XM_005271415.4:c.804+165dup (C11orf65)	XP_005271472.1:n.804+165dup
XM_005271562.5:c.8101dup (ATM)	XP_005271619.2:p.Ile2701AsnfsTer17
XM_006718843.4:c.8101dup (ATM)	XP_006718906.1:p.Ile2701AsnfsTer17
XM_006718845.2:c.4057dup (ATM)	XP_006718908.1:p.Ile1353AsnfsTer17
XM_011542840.3:c.8101dup (ATM)	XP_011541142.1:p.Ile2701AsnfsTer17
XM_011542842.3:c.7936dup (ATM)	XP_011541144.1:p.Ile2646AsnfsTer17
XM_011542843.2:c.8101dup (ATM)	XP_011541145.1:p.Ile2701AsnfsTer17
XM_011542844.3:c.7057dup (ATM)	XP_011541146.1:p.Ile2353AsnfsTer17
XM_011542845.2:c.6793dup (ATM)	XP_011541147.1:p.Ile2265AsnfsTer17
XM_017017789.2:c.8101dup (ATM)	XP_016873278.1:p.Ile2701AsnfsTer17
XM_017017790.2:c.8101dup (ATM)	XP_016873279.1:p.Ile2701AsnfsTer17
NM_001330368.2:c.641-25984dup (C11orf65)	NP_001317297.1:n.641-25984dup
NM_001351110.2:c.*38+165dup (C11orf65)	NP_001338039.1:n.*38+165dup
NM_001351834.2:c.8101dup (ATM)	NP_001338763.1:p.Ile2701AsnfsTer17
NM_000051.4:c.8101dup (ATM) MANE Select	NP_000042.3:p.Ile2701AsnfsTer17
NR_147053.3:n.2372+165dup (C11orf65)