Canonical Allele Identifier: CA915948315

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 645981
• ClinVar RCV Id: RCV000800174 ; RCV001027201 ; RCV003467381
• dbSNP Id: rs1591192266

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335085del , CM000673.2:g.108335085del	GRCh38
NC_000011.9:g.108205812del , CM000673.1:g.108205812del	GRCh37
NC_000011.8:g.107711022del	NCBI36
NG_009830.1:g.117254del , LRG_135:g.117254del
NG_054724.1:g.139748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8127del (ATM)	ENSP00000388058.2:p.Lys2710ArgfsTer13
ENST00000713593.1:c.*7598del (ATM)	ENSP00000518889.1:n.*7598del
ENST00000278616.9:c.8127del (ATM)	ENSP00000278616.4:p.Lys2710ArgfsTer13
ENST00000525056.2:n.2546del (ATM)
ENST00000638786.2:n.825del (ATM)
ENST00000682286.1:n.2884del (ATM)
ENST00000682302.1:n.2545del (ATM)
ENST00000683174.1:n.9611del (ATM)
ENST00000683524.1:n.3351del (ATM)
ENST00000684152.1:n.3543del (ATM)
ENST00000684180.1:n.601del (ATM)
ENST00000684447.1:n.4620del (ATM)
ENST00000527805.6:c.*3191del (ATM)	ENSP00000435747.2:n.*3191del
ENST00000675595.1:c.*3262del (ATM)	ENSP00000502563.1:n.*3262del
ENST00000675843.1:c.8127del (ATM) MANE Select	ENSP00000501606.1:p.Lys2710ArgfsTer13
ENST00000278616.8:c.8127del (ATM)	ENSP00000278616.4:p.Lys2710ArgfsTer13
ENST00000452508.6:c.8127del (ATM)	ENSP00000388058.2:p.Lys2710ArgfsTer13
ENST00000524755.5:c.299+135del (C11orf65)
ENST00000524792.5:n.4342del (ATM)
ENST00000525056.1:n.324del (ATM)
ENST00000525729.5:c.641-26014del (C11orf65)	ENSP00000433395.1:n.641-26014del
ENST00000527531.5:c.*1269+135del (C11orf65)	ENSP00000431706.1:n.*1269+135del
ENST00000533979.5:n.339del (ATM)
ENST00000615746.4:c.*1269+135del (C11orf65)	ENSP00000483537.1:n.*1269+135del
NM_000051.3:c.8127del , LRG_135t1:c.8127del (ATM)	NP_000042.3:p.Lys2710ArgfsTer13
XM_005271414.3:c.*38+135del (C11orf65)	XP_005271471.1:n.*38+135del
XM_005271415.3:c.804+135del (C11orf65)	XP_005271472.1:n.804+135del
XM_005271561.3:c.8127del (ATM)	XP_005271618.2:p.Lys2710ArgfsTer13
XM_005271562.3:c.8127del (ATM)	XP_005271619.2:p.Lys2710ArgfsTer13
XM_006718843.2:c.8127del (ATM)	XP_006718906.1:p.Lys2710ArgfsTer13
XM_006718845.1:c.4083del (ATM)	XP_006718908.1:p.Lys1362ArgfsTer13
XM_011542840.1:c.8127del (ATM)	XP_011541142.1:p.Lys2710ArgfsTer13
XM_011542841.1:c.8127del (ATM)	XP_011541143.1:p.Lys2710ArgfsTer13
XM_011542842.1:c.7962del (ATM)	XP_011541144.1:p.Lys2655ArgfsTer13
XM_011542843.1:c.8127del (ATM)	XP_011541145.1:p.Lys2710ArgfsTer13
XM_011542844.1:c.7083del (ATM)	XP_011541146.1:p.Lys2362ArgfsTer13
XM_011542845.1:c.6819del (ATM)	XP_011541147.1:p.Lys2274ArgfsTer13
XM_011542847.1:c.3198del (ATM)	XP_011541149.1:p.Lys1067ArgfsTer13
NM_001330368.1:c.641-26014del (C11orf65)	NP_001317297.1:n.641-26014del
NM_001351110.1:c.*38+135del (C11orf65)	NP_001338039.1:n.*38+135del
NM_001351834.1:c.8127del (ATM)	NP_001338763.1:p.Lys2710ArgfsTer13
NR_147053.2:n.2374+135del (C11orf65)
XM_005271414.4:c.*38+135del (C11orf65)	XP_005271471.1:n.*38+135del
XM_005271415.4:c.804+135del (C11orf65)	XP_005271472.1:n.804+135del
XM_005271562.5:c.8127del (ATM)	XP_005271619.2:p.Lys2710ArgfsTer13
XM_006718843.4:c.8127del (ATM)	XP_006718906.1:p.Lys2710ArgfsTer13
XM_006718845.2:c.4083del (ATM)	XP_006718908.1:p.Lys1362ArgfsTer13
XM_011542840.3:c.8127del (ATM)	XP_011541142.1:p.Lys2710ArgfsTer13
XM_011542842.3:c.7962del (ATM)	XP_011541144.1:p.Lys2655ArgfsTer13
XM_011542843.2:c.8127del (ATM)	XP_011541145.1:p.Lys2710ArgfsTer13
XM_011542844.3:c.7083del (ATM)	XP_011541146.1:p.Lys2362ArgfsTer13
XM_011542845.2:c.6819del (ATM)	XP_011541147.1:p.Lys2274ArgfsTer13
XM_017017789.2:c.8127del (ATM)	XP_016873278.1:p.Lys2710ArgfsTer13
XM_017017790.2:c.8127del (ATM)	XP_016873279.1:p.Lys2710ArgfsTer13
NM_001330368.2:c.641-26014del (C11orf65)	NP_001317297.1:n.641-26014del
NM_001351110.2:c.*38+135del (C11orf65)	NP_001338039.1:n.*38+135del
NM_001351834.2:c.8127del (ATM)	NP_001338763.1:p.Lys2710ArgfsTer13
NM_000051.4:c.8127del (ATM) MANE Select	NP_000042.3:p.Lys2710ArgfsTer13
NR_147053.3:n.2372+135del (C11orf65)