Canonical Allele Identifier: CA915948294

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 827188
• ClinVar RCV Id: RCV001026697
• dbSNP Id: rs1591171617

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331926_108331928del , CM000673.2:g.108331926_108331928del	GRCh38
NC_000011.9:g.108202653_108202655del , CM000673.1:g.108202653_108202655del	GRCh37
NC_000011.8:g.107707863_107707865del	NCBI36
NG_009830.1:g.114095_114097del , LRG_135:g.114095_114097del
NG_054724.1:g.142909_142911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7677_7679del (ATM)	ENSP00000388058.2:p.Ile2560del
ENST00000713593.1:c.*7148_*7150del (ATM)	ENSP00000518889.1:n.*7148_*7150del
ENST00000278616.9:c.7677_7679del (ATM)	ENSP00000278616.4:p.Ile2560del
ENST00000525056.2:n.2096_2098del (ATM)
ENST00000525537.3:n.634_636del (ATM)
ENST00000638786.2:n.514_516del (ATM)
ENST00000682286.1:n.2434_2436del (ATM)
ENST00000682302.1:n.2095_2097del (ATM)
ENST00000683174.1:n.9161_9163del (ATM)
ENST00000683524.1:n.2901_2903del (ATM)
ENST00000684152.1:n.3343+369_3343+371del (ATM)
ENST00000684447.1:n.2461_2463del (ATM)
ENST00000527805.6:c.*2741_*2743del (ATM)	ENSP00000435747.2:n.*2741_*2743del
ENST00000675595.1:c.*2812_*2814del (ATM)	ENSP00000502563.1:n.*2812_*2814del
ENST00000675843.1:c.7677_7679del (ATM) MANE Select	ENSP00000501606.1:p.Ile2560del
ENST00000278616.8:c.7677_7679del (ATM)	ENSP00000278616.4:p.Ile2560del
ENST00000452508.6:c.7677_7679del (ATM)	ENSP00000388058.2:p.Ile2560del
ENST00000524755.5:c.300-357_300-355del (C11orf65)
ENST00000524792.5:n.3892_3894del (ATM)
ENST00000525729.5:c.641-22853_641-22851del (C11orf65)	ENSP00000433395.1:n.641-22853_641-22851de...
ENST00000527531.5:c.*1270-357_*1270-355del (C11orf65)	ENSP00000431706.1:n.*1270-357_*1270-355de...
ENST00000533690.5:n.3081_3083del (ATM)
ENST00000615746.4:c.*1270-357_*1270-355del (C11orf65)	ENSP00000483537.1:n.*1270-357_*1270-355de...
NM_000051.3:c.7677_7679del , LRG_135t1:c.7677_7679del (ATM)	NP_000042.3:p.Ile2560del
XM_005271414.3:c.*39-357_*39-355del (C11orf65)	XP_005271471.1:n.*39-357_*39-355del
XM_005271415.3:c.805-357_805-355del (C11orf65)	XP_005271472.1:n.805-357_805-355del
XM_005271561.3:c.7677_7679del (ATM)	XP_005271618.2:p.Ile2560del
XM_005271562.3:c.7677_7679del (ATM)	XP_005271619.2:p.Ile2560del
XM_006718843.2:c.7677_7679del (ATM)	XP_006718906.1:p.Ile2560del
XM_006718845.1:c.3633_3635del (ATM)	XP_006718908.1:p.Ile1212del
XM_011542840.1:c.7677_7679del (ATM)	XP_011541142.1:p.Ile2560del
XM_011542841.1:c.7677_7679del (ATM)	XP_011541143.1:p.Ile2560del
XM_011542842.1:c.7512_7514del (ATM)	XP_011541144.1:p.Ile2505del
XM_011542843.1:c.7677_7679del (ATM)	XP_011541145.1:p.Ile2560del
XM_011542844.1:c.6633_6635del (ATM)	XP_011541146.1:p.Ile2212del
XM_011542845.1:c.6369_6371del (ATM)	XP_011541147.1:p.Ile2124del
XM_011542847.1:c.2748_2750del (ATM)	XP_011541149.1:p.Ile917del
NM_001330368.1:c.641-22853_641-22851del (C11orf65)	NP_001317297.1:n.641-22853_641-22851del
NM_001351110.1:c.*38+3296_*38+3298del (C11orf65)	NP_001338039.1:n.*38+3296_*38+3298del
NM_001351834.1:c.7677_7679del (ATM)	NP_001338763.1:p.Ile2560del
NR_147053.2:n.2375-357_2375-355del (C11orf65)
XM_005271414.4:c.*39-357_*39-355del (C11orf65)	XP_005271471.1:n.*39-357_*39-355del
XM_005271415.4:c.805-357_805-355del (C11orf65)	XP_005271472.1:n.805-357_805-355del
XM_005271562.5:c.7677_7679del (ATM)	XP_005271619.2:p.Ile2560del
XM_006718843.4:c.7677_7679del (ATM)	XP_006718906.1:p.Ile2560del
XM_006718845.2:c.3633_3635del (ATM)	XP_006718908.1:p.Ile1212del
XM_011542840.3:c.7677_7679del (ATM)	XP_011541142.1:p.Ile2560del
XM_011542842.3:c.7512_7514del (ATM)	XP_011541144.1:p.Ile2505del
XM_011542843.2:c.7677_7679del (ATM)	XP_011541145.1:p.Ile2560del
XM_011542844.3:c.6633_6635del (ATM)	XP_011541146.1:p.Ile2212del
XM_011542845.2:c.6369_6371del (ATM)	XP_011541147.1:p.Ile2124del
XM_017017789.2:c.7677_7679del (ATM)	XP_016873278.1:p.Ile2560del
XM_017017790.2:c.7677_7679del (ATM)	XP_016873279.1:p.Ile2560del
NM_001330368.2:c.641-22853_641-22851del (C11orf65)	NP_001317297.1:n.641-22853_641-22851del
NM_001351110.2:c.*38+3296_*38+3298del (C11orf65)	NP_001338039.1:n.*38+3296_*38+3298del
NM_001351834.2:c.7677_7679del (ATM)	NP_001338763.1:p.Ile2560del
NM_000051.4:c.7677_7679del (ATM) MANE Select	NP_000042.3:p.Ile2560del
NR_147053.3:n.2373-357_2373-355del (C11orf65)