Canonical Allele Identifier: CA2825001975

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148264
• ClinVar RCV Id: RCV004440168

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332876dup , CM000673.2:g.108332876dup	GRCh38
NC_000011.9:g.108203603dup , CM000673.1:g.108203603dup	GRCh37
NC_000011.8:g.107708813dup	NCBI36
NG_009830.1:g.115045dup , LRG_135:g.115045dup
NG_054724.1:g.141957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7903dup (ATM)	ENSP00000388058.2:p.Ala2635GlyfsTer21
ENST00000713593.1:c.*7374dup (ATM)	ENSP00000518889.1:n.*7374dup
ENST00000278616.9:c.7903dup (ATM)	ENSP00000278616.4:p.Ala2635GlyfsTer21
ENST00000525056.2:n.2322dup (ATM)
ENST00000525537.3:n.1584dup (ATM)
ENST00000638786.2:n.625+839dup (ATM)
ENST00000682286.1:n.2660dup (ATM)
ENST00000682302.1:n.2321dup (ATM)
ENST00000683174.1:n.9387dup (ATM)
ENST00000683524.1:n.3127dup (ATM)
ENST00000684152.1:n.3344-1010dup (ATM)
ENST00000684180.1:n.377dup (ATM)
ENST00000684447.1:n.3411dup (ATM)
ENST00000527805.6:c.*2967dup (ATM)	ENSP00000435747.2:n.*2967dup
ENST00000675595.1:c.*3038dup (ATM)	ENSP00000502563.1:n.*3038dup
ENST00000675843.1:c.7903dup (ATM) MANE Select	ENSP00000501606.1:p.Ala2635GlyfsTer21
ENST00000278616.8:c.7903dup (ATM)	ENSP00000278616.4:p.Ala2635GlyfsTer21
ENST00000452508.6:c.7903dup (ATM)	ENSP00000388058.2:p.Ala2635GlyfsTer21
ENST00000524755.5:c.300-1309dup (C11orf65)
ENST00000524792.5:n.4118dup (ATM)
ENST00000525056.1:n.100dup (ATM)
ENST00000525729.5:c.641-23805dup (C11orf65)	ENSP00000433395.1:n.641-23805dup
ENST00000527531.5:c.*1270-1309dup (C11orf65)	ENSP00000431706.1:n.*1270-1309dup
ENST00000533690.5:n.3307dup (ATM)
ENST00000533979.5:n.115dup (ATM)
ENST00000615746.4:c.*1270-1309dup (C11orf65)	ENSP00000483537.1:n.*1270-1309dup
NM_000051.3:c.7903dup , LRG_135t1:c.7903dup (ATM)	NP_000042.3:p.Ala2635GlyfsTer21
XM_005271414.3:c.*39-1309dup (C11orf65)	XP_005271471.1:n.*39-1309dup
XM_005271415.3:c.805-1309dup (C11orf65)	XP_005271472.1:n.805-1309dup
XM_005271561.3:c.7903dup (ATM)	XP_005271618.2:p.Ala2635GlyfsTer21
XM_005271562.3:c.7903dup (ATM)	XP_005271619.2:p.Ala2635GlyfsTer21
XM_006718843.2:c.7903dup (ATM)	XP_006718906.1:p.Ala2635GlyfsTer21
XM_006718845.1:c.3859dup (ATM)	XP_006718908.1:p.Ala1287GlyfsTer21
XM_011542840.1:c.7903dup (ATM)	XP_011541142.1:p.Ala2635GlyfsTer21
XM_011542841.1:c.7903dup (ATM)	XP_011541143.1:p.Ala2635GlyfsTer21
XM_011542842.1:c.7738dup (ATM)	XP_011541144.1:p.Ala2580GlyfsTer21
XM_011542843.1:c.7903dup (ATM)	XP_011541145.1:p.Ala2635GlyfsTer21
XM_011542844.1:c.6859dup (ATM)	XP_011541146.1:p.Ala2287GlyfsTer21
XM_011542845.1:c.6595dup (ATM)	XP_011541147.1:p.Ala2199GlyfsTer21
XM_011542847.1:c.2974dup (ATM)	XP_011541149.1:p.Ala992GlyfsTer21
NM_001330368.1:c.641-23805dup (C11orf65)	NP_001317297.1:n.641-23805dup
NM_001351110.1:c.*38+2344dup (C11orf65)	NP_001338039.1:n.*38+2344dup
NM_001351834.1:c.7903dup (ATM)	NP_001338763.1:p.Ala2635GlyfsTer21
NR_147053.2:n.2375-1309dup (C11orf65)
XM_005271414.4:c.*39-1309dup (C11orf65)	XP_005271471.1:n.*39-1309dup
XM_005271415.4:c.805-1309dup (C11orf65)	XP_005271472.1:n.805-1309dup
XM_005271562.5:c.7903dup (ATM)	XP_005271619.2:p.Ala2635GlyfsTer21
XM_006718843.4:c.7903dup (ATM)	XP_006718906.1:p.Ala2635GlyfsTer21
XM_006718845.2:c.3859dup (ATM)	XP_006718908.1:p.Ala1287GlyfsTer21
XM_011542840.3:c.7903dup (ATM)	XP_011541142.1:p.Ala2635GlyfsTer21
XM_011542842.3:c.7738dup (ATM)	XP_011541144.1:p.Ala2580GlyfsTer21
XM_011542843.2:c.7903dup (ATM)	XP_011541145.1:p.Ala2635GlyfsTer21
XM_011542844.3:c.6859dup (ATM)	XP_011541146.1:p.Ala2287GlyfsTer21
XM_011542845.2:c.6595dup (ATM)	XP_011541147.1:p.Ala2199GlyfsTer21
XM_017017789.2:c.7903dup (ATM)	XP_016873278.1:p.Ala2635GlyfsTer21
XM_017017790.2:c.7903dup (ATM)	XP_016873279.1:p.Ala2635GlyfsTer21
NM_001330368.2:c.641-23805dup (C11orf65)	NP_001317297.1:n.641-23805dup
NM_001351110.2:c.*38+2344dup (C11orf65)	NP_001338039.1:n.*38+2344dup
NM_001351834.2:c.7903dup (ATM)	NP_001338763.1:p.Ala2635GlyfsTer21
NM_000051.4:c.7903dup (ATM) MANE Select	NP_000042.3:p.Ala2635GlyfsTer21
NR_147053.3:n.2373-1309dup (C11orf65)