Canonical Allele Identifier: CA2580083049

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1754819
• ClinVar RCV Id: RCV002366981

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325414_108325420del , CM000673.2:g.108325414_108325420del	GRCh38
NC_000011.9:g.108196141_108196147del , CM000673.1:g.108196141_108196147del	GRCh37
NC_000011.8:g.107701351_107701357del	NCBI36
NG_009830.1:g.107583_107589del , LRG_135:g.107583_107589del
NG_054724.1:g.149414_149420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6677_6683del (ATM)	ENSP00000388058.2:p.Leu2226GlnfsTer7
ENST00000713593.1:c.*6148_*6154del (ATM)	ENSP00000518889.1:n.*6148_*6154del
ENST00000278616.9:c.6677_6683del (ATM)	ENSP00000278616.4:p.Leu2226GlnfsTer7
ENST00000525056.2:n.1096_1102del (ATM)
ENST00000682286.1:n.1434_1440del (ATM)
ENST00000682302.1:n.1095_1101del (ATM)
ENST00000683174.1:n.8161_8167del (ATM)
ENST00000683524.1:n.1901_1907del (ATM)
ENST00000684152.1:n.2391_2397del (ATM)
ENST00000527805.6:c.*1741_*1747del (ATM)	ENSP00000435747.2:n.*1741_*1747del
ENST00000675595.1:c.*1812_*1818del (ATM)	ENSP00000502563.1:n.*1812_*1818del
ENST00000675843.1:c.6677_6683del (ATM) MANE Select	ENSP00000501606.1:p.Leu2226GlnfsTer7
ENST00000278616.8:c.6677_6683del (ATM)	ENSP00000278616.4:p.Leu2226GlnfsTer7
ENST00000452508.6:c.6677_6683del (ATM)	ENSP00000388058.2:p.Leu2226GlnfsTer7
ENST00000524792.5:n.2892_2898del (ATM)
ENST00000525729.5:c.641-16348_641-16342del (C11orf65)	ENSP00000433395.1:n.641-16348_641-16342del
ENST00000533690.5:n.2081_2087del (ATM)
NM_000051.3:c.6677_6683del , LRG_135t1:c.6677_6683del (ATM)	NP_000042.3:p.Leu2226GlnfsTer7
XM_005271561.3:c.6677_6683del (ATM)	XP_005271618.2:p.Leu2226GlnfsTer7
XM_005271562.3:c.6677_6683del (ATM)	XP_005271619.2:p.Leu2226GlnfsTer7
XM_006718843.2:c.6677_6683del (ATM)	XP_006718906.1:p.Leu2226GlnfsTer7
XM_006718845.1:c.2633_2639del (ATM)	XP_006718908.1:p.Leu878GlnfsTer7
XM_011542840.1:c.6677_6683del (ATM)	XP_011541142.1:p.Leu2226GlnfsTer7
XM_011542841.1:c.6677_6683del (ATM)	XP_011541143.1:p.Leu2226GlnfsTer7
XM_011542842.1:c.6512_6518del (ATM)	XP_011541144.1:p.Leu2171GlnfsTer7
XM_011542843.1:c.6677_6683del (ATM)	XP_011541145.1:p.Leu2226GlnfsTer7
XM_011542844.1:c.5633_5639del (ATM)	XP_011541146.1:p.Leu1878GlnfsTer7
XM_011542845.1:c.5369_5375del (ATM)	XP_011541147.1:p.Leu1790GlnfsTer7
XM_011542847.1:c.1748_1754del (ATM)	XP_011541149.1:p.Leu583GlnfsTer7
NM_001330368.1:c.641-16348_641-16342del (C11orf65)	NP_001317297.1:n.641-16348_641-16342del
NM_001351110.1:c.*38+9801_*38+9807del (C11orf65)	NP_001338039.1:n.*38+9801_*38+9807del
NM_001351834.1:c.6677_6683del (ATM)	NP_001338763.1:p.Leu2226GlnfsTer7
XM_005271562.5:c.6677_6683del (ATM)	XP_005271619.2:p.Leu2226GlnfsTer7
XM_006718843.4:c.6677_6683del (ATM)	XP_006718906.1:p.Leu2226GlnfsTer7
XM_006718845.2:c.2633_2639del (ATM)	XP_006718908.1:p.Leu878GlnfsTer7
XM_011542840.3:c.6677_6683del (ATM)	XP_011541142.1:p.Leu2226GlnfsTer7
XM_011542842.3:c.6512_6518del (ATM)	XP_011541144.1:p.Leu2171GlnfsTer7
XM_011542843.2:c.6677_6683del (ATM)	XP_011541145.1:p.Leu2226GlnfsTer7
XM_011542844.3:c.5633_5639del (ATM)	XP_011541146.1:p.Leu1878GlnfsTer7
XM_011542845.2:c.5369_5375del (ATM)	XP_011541147.1:p.Leu1790GlnfsTer7
XM_017017789.2:c.6677_6683del (ATM)	XP_016873278.1:p.Leu2226GlnfsTer7
XM_017017790.2:c.6677_6683del (ATM)	XP_016873279.1:p.Leu2226GlnfsTer7
NM_001330368.2:c.641-16348_641-16342del (C11orf65)	NP_001317297.1:n.641-16348_641-16342del
NM_001351110.2:c.*38+9801_*38+9807del (C11orf65)	NP_001338039.1:n.*38+9801_*38+9807del
NM_001351834.2:c.6677_6683del (ATM)	NP_001338763.1:p.Leu2226GlnfsTer7
NM_000051.4:c.6677_6683del (ATM) MANE Select	NP_000042.3:p.Leu2226GlnfsTer7