Canonical Allele Identifier: CA658656302

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 481107
• ClinVar RCV Id: RCV000570724 ; RCV000780915 ; RCV004024467
• dbSNP Id: rs1555125349
• MyVariant Identifiers: chr11:g.108203558del (hg19) ; chr11:g.108332831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332831del , CM000673.2:g.108332831del	GRCh38
NC_000011.9:g.108203558del , CM000673.1:g.108203558del	GRCh37
NC_000011.8:g.107708768del	NCBI36
NG_009830.1:g.115000del , LRG_135:g.115000del
NG_054724.1:g.142002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7858del (ATM)	ENSP00000388058.2:p.Val2620LeufsTer11
ENST00000713593.1:c.*7329del (ATM)	ENSP00000518889.1:n.*7329del
ENST00000278616.9:c.7858del (ATM)	ENSP00000278616.4:p.Val2620LeufsTer11
ENST00000525056.2:n.2277del (ATM)
ENST00000525537.3:n.1539del (ATM)
ENST00000638786.2:n.625+794del (ATM)
ENST00000682286.1:n.2615del (ATM)
ENST00000682302.1:n.2276del (ATM)
ENST00000683174.1:n.9342del (ATM)
ENST00000683524.1:n.3082del (ATM)
ENST00000684152.1:n.3344-1055del (ATM)
ENST00000684180.1:n.332del (ATM)
ENST00000684447.1:n.3366del (ATM)
ENST00000527805.6:c.*2922del (ATM)	ENSP00000435747.2:n.*2922del
ENST00000675595.1:c.*2993del (ATM)	ENSP00000502563.1:n.*2993del
ENST00000675843.1:c.7858del (ATM) MANE Select	ENSP00000501606.1:p.Val2620LeufsTer11
ENST00000278616.8:c.7858del (ATM)	ENSP00000278616.4:p.Val2620LeufsTer11
ENST00000452508.6:c.7858del (ATM)	ENSP00000388058.2:p.Val2620LeufsTer11
ENST00000524755.5:c.300-1264del (C11orf65)
ENST00000524792.5:n.4073del (ATM)
ENST00000525056.1:n.55del (ATM)
ENST00000525729.5:c.641-23760del (C11orf65)	ENSP00000433395.1:n.641-23760del
ENST00000527531.5:c.*1270-1264del (C11orf65)	ENSP00000431706.1:n.*1270-1264del
ENST00000533690.5:n.3262del (ATM)
ENST00000533979.5:n.70del (ATM)
ENST00000615746.4:c.*1270-1264del (C11orf65)	ENSP00000483537.1:n.*1270-1264del
NM_000051.3:c.7858del , LRG_135t1:c.7858del (ATM)	NP_000042.3:p.Val2620LeufsTer11
XM_005271414.3:c.*39-1264del (C11orf65)	XP_005271471.1:n.*39-1264del
XM_005271415.3:c.805-1264del (C11orf65)	XP_005271472.1:n.805-1264del
XM_005271561.3:c.7858del (ATM)	XP_005271618.2:p.Val2620LeufsTer11
XM_005271562.3:c.7858del (ATM)	XP_005271619.2:p.Val2620LeufsTer11
XM_006718843.2:c.7858del (ATM)	XP_006718906.1:p.Val2620LeufsTer11
XM_006718845.1:c.3814del (ATM)	XP_006718908.1:p.Val1272LeufsTer11
XM_011542840.1:c.7858del (ATM)	XP_011541142.1:p.Val2620LeufsTer11
XM_011542841.1:c.7858del (ATM)	XP_011541143.1:p.Val2620LeufsTer11
XM_011542842.1:c.7693del (ATM)	XP_011541144.1:p.Val2565LeufsTer11
XM_011542843.1:c.7858del (ATM)	XP_011541145.1:p.Val2620LeufsTer11
XM_011542844.1:c.6814del (ATM)	XP_011541146.1:p.Val2272LeufsTer11
XM_011542845.1:c.6550del (ATM)	XP_011541147.1:p.Val2184LeufsTer11
XM_011542847.1:c.2929del (ATM)	XP_011541149.1:p.Val977LeufsTer11
NM_001330368.1:c.641-23760del (C11orf65)	NP_001317297.1:n.641-23760del
NM_001351110.1:c.*38+2389del (C11orf65)	NP_001338039.1:n.*38+2389del
NM_001351834.1:c.7858del (ATM)	NP_001338763.1:p.Val2620LeufsTer11
NR_147053.2:n.2375-1264del (C11orf65)
XM_005271414.4:c.*39-1264del (C11orf65)	XP_005271471.1:n.*39-1264del
XM_005271415.4:c.805-1264del (C11orf65)	XP_005271472.1:n.805-1264del
XM_005271562.5:c.7858del (ATM)	XP_005271619.2:p.Val2620LeufsTer11
XM_006718843.4:c.7858del (ATM)	XP_006718906.1:p.Val2620LeufsTer11
XM_006718845.2:c.3814del (ATM)	XP_006718908.1:p.Val1272LeufsTer11
XM_011542840.3:c.7858del (ATM)	XP_011541142.1:p.Val2620LeufsTer11
XM_011542842.3:c.7693del (ATM)	XP_011541144.1:p.Val2565LeufsTer11
XM_011542843.2:c.7858del (ATM)	XP_011541145.1:p.Val2620LeufsTer11
XM_011542844.3:c.6814del (ATM)	XP_011541146.1:p.Val2272LeufsTer11
XM_011542845.2:c.6550del (ATM)	XP_011541147.1:p.Val2184LeufsTer11
XM_017017789.2:c.7858del (ATM)	XP_016873278.1:p.Val2620LeufsTer11
XM_017017790.2:c.7858del (ATM)	XP_016873279.1:p.Val2620LeufsTer11
NM_001330368.2:c.641-23760del (C11orf65)	NP_001317297.1:n.641-23760del
NM_001351110.2:c.*38+2389del (C11orf65)	NP_001338039.1:n.*38+2389del
NM_001351834.2:c.7858del (ATM)	NP_001338763.1:p.Val2620LeufsTer11
NM_000051.4:c.7858del (ATM) MANE Select	NP_000042.3:p.Val2620LeufsTer11
NR_147053.3:n.2373-1264del (C11orf65)