Canonical Allele Identifier: CA2499220745

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1071484
• ClinVar RCV Id: RCV001383966
• dbSNP Id: rs2137915972

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365407_108365561del , CM000673.2:g.108365407_108365561del	GRCh38
NC_000011.9:g.108236134_108236288del , CM000673.1:g.108236134_108236288del	GRCh37
NC_000011.8:g.107741344_107741498del	NCBI36
NG_009830.1:g.147576_147730del , LRG_135:g.147576_147730del
NG_054724.1:g.109274_109428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.9070_*53del (ATM)	ENSP00000388058.2:n.[c.9070_*53del;Thr3024LeufsTer4]
ENST00000713593.1:c.*8541_*8695del (ATM)	ENSP00000518889.1:n.*8541_*8695del
ENST00000278616.9:c.9070_*53del (ATM)	ENSP00000278616.4:n.[c.9070_*53del;Thr3024LeufsTer4]
ENST00000638786.2:n.1768_1922del (ATM)
ENST00000682286.1:n.3827_3981del (ATM)
ENST00000682302.1:n.3488_3642del (ATM)
ENST00000682569.1:n.2417_2571del (ATM)
ENST00000683174.1:n.10554_10708del (ATM)
ENST00000683524.1:n.4294_4448del (ATM)
ENST00000684152.1:n.4486_4640del (ATM)
ENST00000684180.1:n.1544_1698del (ATM)
ENST00000684447.1:n.5563_5717del (ATM)
ENST00000527805.6:c.*4134_*4288del (ATM)	ENSP00000435747.2:n.*4134_*4288del
ENST00000675595.1:c.*4205_*4359del (ATM)	ENSP00000502563.1:n.*4205_*4359del
ENST00000675843.1:c.9070_*53del (ATM) MANE Select	ENSP00000501606.1:n.[c.9070_*53del;Thr3024LeufsTer4]
ENST00000278616.8:c.9070_*53del (ATM)	ENSP00000278616.4:n.[c.9070_*53del;Thr3024LeufsTer4]
ENST00000452508.6:c.9070_*53del (ATM)	ENSP00000388058.2:n.[c.9070_*53del;Thr3024LeufsTer4]
ENST00000524755.5:c.226+27649_226+27803del (C11orf65)
ENST00000524792.5:n.5285_5439del (ATM)
ENST00000525178.5:n.558_712del (ATM)
ENST00000525729.5:c.640+20361_640+20515del (C11orf65)	ENSP00000433395.1:n.640+20361_640+20515del
ENST00000526725.1:n.272-25195_272-25041del (C11orf65)
ENST00000527181.1:n.409_563del (ATM)
ENST00000527531.5:c.*2-9450_*2-9296del (C11orf65)	ENSP00000431706.1:n.*2-9450_*2-9296del
ENST00000615746.4:c.*2-9450_*2-9296del (C11orf65)	ENSP00000483537.1:n.*2-9450_*2-9296del
NM_000051.3:c.9070_*53del , LRG_135t1:c.9070_*53del (ATM)	NP_000042.3:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_005271414.3:c.787+20361_787+20515del (C11orf65)	XP_005271471.1:n.787+20361_787+20515del
XM_005271415.3:c.731+27649_731+27803del (C11orf65)	XP_005271472.1:n.731+27649_731+27803del
XM_005271561.3:c.9070_*53del (ATM)	XP_005271618.2:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_005271562.3:c.9070_*53del (ATM)	XP_005271619.2:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_006718843.2:c.9070_*53del (ATM)	XP_006718906.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_006718845.1:c.5026_*53del (ATM)	XP_006718908.1:n.[c.5026_*53del;Thr1676LeufsTer4]
XM_011542640.1:c.787+20361_787+20515del (C11orf65)	XP_011540942.1:n.787+20361_787+20515del
XM_011542642.1:c.732-16486_732-16332del (C11orf65)	XP_011540944.1:n.732-16486_732-16332del
XM_011542643.1:c.732-25195_732-25041del (C11orf65)	XP_011540945.1:n.732-25195_732-25041del
XM_011542840.1:c.9070_*53del (ATM)	XP_011541142.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_011542841.1:c.9070_*53del (ATM)	XP_011541143.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_011542842.1:c.8905_*53del (ATM)	XP_011541144.1:n.[c.8905_*53del;Thr2969LeufsTer4]
XM_011542844.1:c.8026_*53del (ATM)	XP_011541146.1:n.[c.8026_*53del;Thr2676LeufsTer4]
XM_011542845.1:c.7762_*53del (ATM)	XP_011541147.1:n.[c.7762_*53del;Thr2588LeufsTer4]
XM_011542847.1:c.4141_*53del (ATM)	XP_011541149.1:n.[c.4141_*53del;Thr1381LeufsTer4]
NM_001330368.1:c.640+20361_640+20515del (C11orf65)	NP_001317297.1:n.640+20361_640+20515del
NM_001351110.1:c.694+20361_694+20515del (C11orf65)	NP_001338039.1:n.694+20361_694+20515del
NM_001351834.1:c.9070_*53del (ATM)	NP_001338763.1:n.[c.9070_*53del;Thr3024LeufsTer4]
NR_147053.2:n.1107-9450_1107-9296del (C11orf65)
XM_005271414.4:c.787+20361_787+20515del (C11orf65)	XP_005271471.1:n.787+20361_787+20515del
XM_005271415.4:c.731+27649_731+27803del (C11orf65)	XP_005271472.1:n.731+27649_731+27803del
XM_005271562.5:c.9070_*53del (ATM)	XP_005271619.2:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_006718843.4:c.9070_*53del (ATM)	XP_006718906.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_006718845.2:c.5026_*53del (ATM)	XP_006718908.1:n.[c.5026_*53del;Thr1676LeufsTer4]
XM_011542640.2:c.787+20361_787+20515del (C11orf65)	XP_011540942.1:n.787+20361_787+20515del
XM_011542643.2:c.732-25195_732-25041del (C11orf65)	XP_011540945.1:n.732-25195_732-25041del
XM_011542840.3:c.9070_*53del (ATM)	XP_011541142.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_011542842.3:c.8905_*53del (ATM)	XP_011541144.1:n.[c.8905_*53del;Thr2969LeufsTer4]
XM_011542844.3:c.8026_*53del (ATM)	XP_011541146.1:n.[c.8026_*53del;Thr2676LeufsTer4]
XM_011542845.2:c.7762_*53del (ATM)	XP_011541147.1:n.[c.7762_*53del;Thr2588LeufsTer4]
XM_017017247.1:c.903+17501_903+17655del (C11orf65)	XP_016872736.1:n.903+17501_903+17655del
XM_017017789.2:c.9070_*53del (ATM)	XP_016873278.1:n.[c.9070_*53del;Thr3024LeufsTer4]
XM_017017790.2:c.9070_*53del (ATM)	XP_016873279.1:n.[c.9070_*53del;Thr3024LeufsTer4]
NM_001330368.2:c.640+20361_640+20515del (C11orf65)	NP_001317297.1:n.640+20361_640+20515del
NM_001351110.2:c.694+20361_694+20515del (C11orf65)	NP_001338039.1:n.694+20361_694+20515del
NM_001351834.2:c.9070_*53del (ATM)	NP_001338763.1:n.[c.9070_*53del;Thr3024LeufsTer4]
NM_000051.4:c.9070_*53del (ATM) MANE Select	NP_000042.3:n.[c.9070_*53del;Thr3024LeufsTer4]
NR_147053.3:n.1105-9450_1105-9296del (C11orf65)