Canonical Allele Identifier: CA2514628291

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326174_108326175insAC , CM000673.2:g.108326174_108326175insAC	GRCh38
NC_000011.9:g.108196901_108196902insAC , CM000673.1:g.108196901_108196902insAC	GRCh37
NC_000011.8:g.107702111_107702112insAC	NCBI36
NG_009830.1:g.108343_108344insAC , LRG_135:g.108343_108344insAC
NG_054724.1:g.148659_148660insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6924_6925insAC (ATM)	ENSP00000388058.2:p.Leu2309ThrfsTer2
ENST00000713593.1:c.*6395_*6396insAC (ATM)	ENSP00000518889.1:n.*6395_*6396insAC
ENST00000278616.9:c.6924_6925insAC (ATM)	ENSP00000278616.4:p.Leu2309ThrfsTer2
ENST00000525056.2:n.1343_1344insAC (ATM)
ENST00000682286.1:n.1681_1682insAC (ATM)
ENST00000682302.1:n.1342_1343insAC (ATM)
ENST00000683174.1:n.8408_8409insAC (ATM)
ENST00000683524.1:n.2148_2149insAC (ATM)
ENST00000684152.1:n.2638_2639insAC (ATM)
ENST00000527805.6:c.*1988_*1989insAC (ATM)	ENSP00000435747.2:n.*1988_*1989insAC
ENST00000675595.1:c.*2059_*2060insAC (ATM)	ENSP00000502563.1:n.*2059_*2060insAC
ENST00000675843.1:c.6924_6925insAC (ATM) MANE Select	ENSP00000501606.1:p.Leu2309ThrfsTer2
ENST00000278616.8:c.6924_6925insAC (ATM)	ENSP00000278616.4:p.Leu2309ThrfsTer2
ENST00000452508.6:c.6924_6925insAC (ATM)	ENSP00000388058.2:p.Leu2309ThrfsTer2
ENST00000524792.5:n.3139_3140insAC (ATM)
ENST00000525729.5:c.641-17103_641-17102insTG (C11orf65)	ENSP00000433395.1:n.641-17103_641-17102insTG
ENST00000533690.5:n.2328_2329insAC (ATM)
NM_000051.3:c.6924_6925insAC , LRG_135t1:c.6924_6925insAC (ATM)	NP_000042.3:p.Leu2309ThrfsTer2
XM_005271561.3:c.6924_6925insAC (ATM)	XP_005271618.2:p.Leu2309ThrfsTer2
XM_005271562.3:c.6924_6925insAC (ATM)	XP_005271619.2:p.Leu2309ThrfsTer2
XM_006718843.2:c.6924_6925insAC (ATM)	XP_006718906.1:p.Leu2309ThrfsTer2
XM_006718845.1:c.2880_2881insAC (ATM)	XP_006718908.1:p.Leu961ThrfsTer2
XM_011542840.1:c.6924_6925insAC (ATM)	XP_011541142.1:p.Leu2309ThrfsTer2
XM_011542841.1:c.6924_6925insAC (ATM)	XP_011541143.1:p.Leu2309ThrfsTer2
XM_011542842.1:c.6759_6760insAC (ATM)	XP_011541144.1:p.Leu2254ThrfsTer2
XM_011542843.1:c.6924_6925insAC (ATM)	XP_011541145.1:p.Leu2309ThrfsTer2
XM_011542844.1:c.5880_5881insAC (ATM)	XP_011541146.1:p.Leu1961ThrfsTer2
XM_011542845.1:c.5616_5617insAC (ATM)	XP_011541147.1:p.Leu1873ThrfsTer2
XM_011542847.1:c.1995_1996insAC (ATM)	XP_011541149.1:p.Leu666ThrfsTer2
NM_001330368.1:c.641-17103_641-17102insTG (C11orf65)	NP_001317297.1:n.641-17103_641-17102insTG
NM_001351110.1:c.*38+9046_*38+9047insTG (C11orf65)	NP_001338039.1:n.*38+9046_*38+9047insTG
NM_001351834.1:c.6924_6925insAC (ATM)	NP_001338763.1:p.Leu2309ThrfsTer2
XM_005271562.5:c.6924_6925insAC (ATM)	XP_005271619.2:p.Leu2309ThrfsTer2
XM_006718843.4:c.6924_6925insAC (ATM)	XP_006718906.1:p.Leu2309ThrfsTer2
XM_006718845.2:c.2880_2881insAC (ATM)	XP_006718908.1:p.Leu961ThrfsTer2
XM_011542840.3:c.6924_6925insAC (ATM)	XP_011541142.1:p.Leu2309ThrfsTer2
XM_011542842.3:c.6759_6760insAC (ATM)	XP_011541144.1:p.Leu2254ThrfsTer2
XM_011542843.2:c.6924_6925insAC (ATM)	XP_011541145.1:p.Leu2309ThrfsTer2
XM_011542844.3:c.5880_5881insAC (ATM)	XP_011541146.1:p.Leu1961ThrfsTer2
XM_011542845.2:c.5616_5617insAC (ATM)	XP_011541147.1:p.Leu1873ThrfsTer2
XM_017017789.2:c.6924_6925insAC (ATM)	XP_016873278.1:p.Leu2309ThrfsTer2
XM_017017790.2:c.6924_6925insAC (ATM)	XP_016873279.1:p.Leu2309ThrfsTer2
NM_001330368.2:c.641-17103_641-17102insTG (C11orf65)	NP_001317297.1:n.641-17103_641-17102insTG
NM_001351110.2:c.*38+9046_*38+9047insTG (C11orf65)	NP_001338039.1:n.*38+9046_*38+9047insTG
NM_001351834.2:c.6924_6925insAC (ATM)	NP_001338763.1:p.Leu2309ThrfsTer2
NM_000051.4:c.6924_6925insAC (ATM) MANE Select	NP_000042.3:p.Leu2309ThrfsTer2