Canonical Allele Identifier: CA2825001931

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148788
• ClinVar RCV Id: RCV004442686

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325404_108325438del , CM000673.2:g.108325404_108325438del	GRCh38
NC_000011.9:g.108196131_108196165del , CM000673.1:g.108196131_108196165del	GRCh37
NC_000011.8:g.107701341_107701375del	NCBI36
NG_009830.1:g.107573_107607del , LRG_135:g.107573_107607del
NG_054724.1:g.149398_149432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6667_6701del (ATM)	ENSP00000388058.2:p.Ile2223AspfsTer14
ENST00000713593.1:c.*6138_*6172del (ATM)	ENSP00000518889.1:n.*6138_*6172del
ENST00000278616.9:c.6667_6701del (ATM)	ENSP00000278616.4:p.Ile2223AspfsTer14
ENST00000525056.2:n.1086_1120del (ATM)
ENST00000682286.1:n.1424_1458del (ATM)
ENST00000682302.1:n.1085_1119del (ATM)
ENST00000683174.1:n.8151_8185del (ATM)
ENST00000683524.1:n.1891_1925del (ATM)
ENST00000684152.1:n.2381_2415del (ATM)
ENST00000527805.6:c.*1731_*1765del (ATM)	ENSP00000435747.2:n.*1731_*1765del
ENST00000675595.1:c.*1802_*1836del (ATM)	ENSP00000502563.1:n.*1802_*1836del
ENST00000675843.1:c.6667_6701del (ATM) MANE Select	ENSP00000501606.1:p.Ile2223AspfsTer14
ENST00000278616.8:c.6667_6701del (ATM)	ENSP00000278616.4:p.Ile2223AspfsTer14
ENST00000452508.6:c.6667_6701del (ATM)	ENSP00000388058.2:p.Ile2223AspfsTer14
ENST00000524792.5:n.2882_2916del (ATM)
ENST00000525729.5:c.641-16364_641-16330del (C11orf65)	ENSP00000433395.1:n.641-16364_641-16330del
ENST00000533690.5:n.2071_2105del (ATM)
NM_000051.3:c.6667_6701del , LRG_135t1:c.6667_6701del (ATM)	NP_000042.3:p.Ile2223AspfsTer14
XM_005271561.3:c.6667_6701del (ATM)	XP_005271618.2:p.Ile2223AspfsTer14
XM_005271562.3:c.6667_6701del (ATM)	XP_005271619.2:p.Ile2223AspfsTer14
XM_006718843.2:c.6667_6701del (ATM)	XP_006718906.1:p.Ile2223AspfsTer14
XM_006718845.1:c.2623_2657del (ATM)	XP_006718908.1:p.Ile875AspfsTer14
XM_011542840.1:c.6667_6701del (ATM)	XP_011541142.1:p.Ile2223AspfsTer14
XM_011542841.1:c.6667_6701del (ATM)	XP_011541143.1:p.Ile2223AspfsTer14
XM_011542842.1:c.6502_6536del (ATM)	XP_011541144.1:p.Ile2168AspfsTer14
XM_011542843.1:c.6667_6701del (ATM)	XP_011541145.1:p.Ile2223AspfsTer14
XM_011542844.1:c.5623_5657del (ATM)	XP_011541146.1:p.Ile1875AspfsTer14
XM_011542845.1:c.5359_5393del (ATM)	XP_011541147.1:p.Ile1787AspfsTer14
XM_011542847.1:c.1738_1772del (ATM)	XP_011541149.1:p.Ile580AspfsTer14
NM_001330368.1:c.641-16364_641-16330del (C11orf65)	NP_001317297.1:n.641-16364_641-16330del
NM_001351110.1:c.*38+9785_*38+9819del (C11orf65)	NP_001338039.1:n.*38+9785_*38+9819del
NM_001351834.1:c.6667_6701del (ATM)	NP_001338763.1:p.Ile2223AspfsTer14
XM_005271562.5:c.6667_6701del (ATM)	XP_005271619.2:p.Ile2223AspfsTer14
XM_006718843.4:c.6667_6701del (ATM)	XP_006718906.1:p.Ile2223AspfsTer14
XM_006718845.2:c.2623_2657del (ATM)	XP_006718908.1:p.Ile875AspfsTer14
XM_011542840.3:c.6667_6701del (ATM)	XP_011541142.1:p.Ile2223AspfsTer14
XM_011542842.3:c.6502_6536del (ATM)	XP_011541144.1:p.Ile2168AspfsTer14
XM_011542843.2:c.6667_6701del (ATM)	XP_011541145.1:p.Ile2223AspfsTer14
XM_011542844.3:c.5623_5657del (ATM)	XP_011541146.1:p.Ile1875AspfsTer14
XM_011542845.2:c.5359_5393del (ATM)	XP_011541147.1:p.Ile1787AspfsTer14
XM_017017789.2:c.6667_6701del (ATM)	XP_016873278.1:p.Ile2223AspfsTer14
XM_017017790.2:c.6667_6701del (ATM)	XP_016873279.1:p.Ile2223AspfsTer14
NM_001330368.2:c.641-16364_641-16330del (C11orf65)	NP_001317297.1:n.641-16364_641-16330del
NM_001351110.2:c.*38+9785_*38+9819del (C11orf65)	NP_001338039.1:n.*38+9785_*38+9819del
NM_001351834.2:c.6667_6701del (ATM)	NP_001338763.1:p.Ile2223AspfsTer14
NM_000051.4:c.6667_6701del (ATM) MANE Select	NP_000042.3:p.Ile2223AspfsTer14