Canonical Allele Identifier: CA2574971281

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327675_108327676del , CM000673.2:g.108327675_108327676del	GRCh38
NC_000011.9:g.108198402_108198403del , CM000673.1:g.108198402_108198403del	GRCh37
NC_000011.8:g.107703612_107703613del	NCBI36
NG_009830.1:g.109844_109845del , LRG_135:g.109844_109845del
NG_054724.1:g.147158_147159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7006_7007del (ATM)	ENSP00000388058.2:p.Glu2336MetfsTer?
ENST00000713593.1:c.*6477_*6478del (ATM)	ENSP00000518889.1:n.*6477_*6478del
ENST00000278616.9:c.7006_7007del (ATM)	ENSP00000278616.4:p.Glu2336MetfsTer?
ENST00000525056.2:n.1425_1426del (ATM)
ENST00000682286.1:n.1763_1764del (ATM)
ENST00000682302.1:n.1424_1425del (ATM)
ENST00000683174.1:n.8490_8491del (ATM)
ENST00000683524.1:n.2230_2231del (ATM)
ENST00000684152.1:n.2720_2721del (ATM)
ENST00000684447.1:n.1469_1470del (ATM)
ENST00000527805.6:c.*2070_*2071del (ATM)	ENSP00000435747.2:n.*2070_*2071del
ENST00000675595.1:c.*2141_*2142del (ATM)	ENSP00000502563.1:n.*2141_*2142del
ENST00000675843.1:c.7006_7007del (ATM) MANE Select	ENSP00000501606.1:p.Glu2336MetfsTer?
ENST00000278616.8:c.7006_7007del (ATM)	ENSP00000278616.4:p.Glu2336MetfsTer?
ENST00000452508.6:c.7006_7007del (ATM)	ENSP00000388058.2:p.Glu2336MetfsTer?
ENST00000524792.5:n.3221_3222del (ATM)
ENST00000525537.2:n.282_283del (ATM)
ENST00000525729.5:c.641-18604_641-18603del (C11orf65)	ENSP00000433395.1:n.641-18604_641-18603del
ENST00000527389.2:n.31_32del (ATM)
ENST00000533690.5:n.2410_2411del (ATM)
NM_000051.3:c.7006_7007del , LRG_135t1:c.7006_7007del (ATM)	NP_000042.3:p.Glu2336MetfsTer?
XM_005271561.3:c.7006_7007del (ATM)	XP_005271618.2:p.Glu2336MetfsTer?
XM_005271562.3:c.7006_7007del (ATM)	XP_005271619.2:p.Glu2336MetfsTer?
XM_006718843.2:c.7006_7007del (ATM)	XP_006718906.1:p.Glu2336MetfsTer?
XM_006718845.1:c.2962_2963del (ATM)	XP_006718908.1:p.Glu988MetfsTer?
XM_011542840.1:c.7006_7007del (ATM)	XP_011541142.1:p.Glu2336MetfsTer?
XM_011542841.1:c.7006_7007del (ATM)	XP_011541143.1:p.Glu2336MetfsTer?
XM_011542842.1:c.6841_6842del (ATM)	XP_011541144.1:p.Glu2281MetfsTer?
XM_011542843.1:c.7006_7007del (ATM)	XP_011541145.1:p.Glu2336MetfsTer?
XM_011542844.1:c.5962_5963del (ATM)	XP_011541146.1:p.Glu1988MetfsTer?
XM_011542845.1:c.5698_5699del (ATM)	XP_011541147.1:p.Glu1900MetfsTer?
XM_011542847.1:c.2077_2078del (ATM)	XP_011541149.1:p.Glu693MetfsTer?
NM_001330368.1:c.641-18604_641-18603del (C11orf65)	NP_001317297.1:n.641-18604_641-18603del
NM_001351110.1:c.*38+7545_*38+7546del (C11orf65)	NP_001338039.1:n.*38+7545_*38+7546del
NM_001351834.1:c.7006_7007del (ATM)	NP_001338763.1:p.Glu2336MetfsTer?
XM_005271562.5:c.7006_7007del (ATM)	XP_005271619.2:p.Glu2336MetfsTer?
XM_006718843.4:c.7006_7007del (ATM)	XP_006718906.1:p.Glu2336MetfsTer?
XM_006718845.2:c.2962_2963del (ATM)	XP_006718908.1:p.Glu988MetfsTer?
XM_011542840.3:c.7006_7007del (ATM)	XP_011541142.1:p.Glu2336MetfsTer?
XM_011542842.3:c.6841_6842del (ATM)	XP_011541144.1:p.Glu2281MetfsTer?
XM_011542843.2:c.7006_7007del (ATM)	XP_011541145.1:p.Glu2336MetfsTer?
XM_011542844.3:c.5962_5963del (ATM)	XP_011541146.1:p.Glu1988MetfsTer?
XM_011542845.2:c.5698_5699del (ATM)	XP_011541147.1:p.Glu1900MetfsTer?
XM_017017789.2:c.7006_7007del (ATM)	XP_016873278.1:p.Glu2336MetfsTer?
XM_017017790.2:c.7006_7007del (ATM)	XP_016873279.1:p.Glu2336MetfsTer?
NM_001330368.2:c.641-18604_641-18603del (C11orf65)	NP_001317297.1:n.641-18604_641-18603del
NM_001351110.2:c.*38+7545_*38+7546del (C11orf65)	NP_001338039.1:n.*38+7545_*38+7546del
NM_001351834.2:c.7006_7007del (ATM)	NP_001338763.1:p.Glu2336MetfsTer?
NM_000051.4:c.7006_7007del (ATM) MANE Select	NP_000042.3:p.Glu2336MetfsTer?