Canonical Allele Identifier: CA2580083543

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2431323
• ClinVar RCV Id: RCV003140383

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332032_108332065del , CM000673.2:g.108332032_108332065del	GRCh38
NC_000011.9:g.108202759_108202792del , CM000673.1:g.108202759_108202792del	GRCh37
NC_000011.8:g.107707969_107708002del	NCBI36
NG_009830.1:g.114201_114234del , LRG_135:g.114201_114234del
NG_054724.1:g.142770_142803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7783_7788+28del (ATM)
ENST00000713593.1:c.*7254_*7259+28del (ATM)
ENST00000278616.9:c.7783_7788+28del (ATM)
ENST00000525056.2:n.2202_2207+28del (ATM)
ENST00000525537.3:n.740_773del (ATM)
ENST00000638786.2:n.620_625+28del (ATM)
ENST00000682286.1:n.2540_2545+28del (ATM)
ENST00000682302.1:n.2201_2206+28del (ATM)
ENST00000683174.1:n.9267_9272+28del (ATM)
ENST00000683524.1:n.3007_3012+28del (ATM)
ENST00000684152.1:n.3343+475_3343+508del (ATM)
ENST00000684447.1:n.2567_2600del (ATM)
ENST00000527805.6:c.*2847_*2852+28del (ATM)
ENST00000675595.1:c.*2918_*2923+28del (ATM)
ENST00000675843.1:c.7783_7788+28del (ATM)
ENST00000278616.8:c.7783_7788+28del (ATM)
ENST00000452508.6:c.7783_7788+28del (ATM)
ENST00000524755.5:c.300-496_300-463del (C11orf65)
ENST00000524792.5:n.3998_4003+28del (ATM)
ENST00000525729.5:c.641-22992_641-22959del (C11orf65)	ENSP00000433395.1:n.641-22992_641-22959del
ENST00000527531.5:c.*1270-496_*1270-463del (C11orf65)	ENSP00000431706.1:n.*1270-496_*1270-463del
ENST00000533690.5:n.3187_3192+28del (ATM)
ENST00000615746.4:c.*1270-496_*1270-463del (C11orf65)	ENSP00000483537.1:n.*1270-496_*1270-463del
NM_000051.3:c.7783_7788+28del , LRG_135t1:c.7783_7788+28del (ATM)
XM_005271414.3:c.*39-496_*39-463del (C11orf65)	XP_005271471.1:n.*39-496_*39-463del
XM_005271415.3:c.805-496_805-463del (C11orf65)	XP_005271472.1:n.805-496_805-463del
XM_005271561.3:c.7783_7788+28del (ATM)
XM_005271562.3:c.7783_7788+28del (ATM)
XM_006718843.2:c.7783_7788+28del (ATM)
XM_006718845.1:c.3739_3744+28del (ATM)
XM_011542840.1:c.7783_7788+28del (ATM)
XM_011542841.1:c.7783_7788+28del (ATM)
XM_011542842.1:c.7618_7623+28del (ATM)
XM_011542843.1:c.7783_7788+28del (ATM)
XM_011542844.1:c.6739_6744+28del (ATM)
XM_011542845.1:c.6475_6480+28del (ATM)
XM_011542847.1:c.2854_2859+28del (ATM)
NM_001330368.1:c.641-22992_641-22959del (C11orf65)	NP_001317297.1:n.641-22992_641-22959del
NM_001351110.1:c.*38+3157_*38+3190del (C11orf65)	NP_001338039.1:n.*38+3157_*38+3190del
NM_001351834.1:c.7783_7788+28del (ATM)
NR_147053.2:n.2375-496_2375-463del (C11orf65)
XM_005271414.4:c.*39-496_*39-463del (C11orf65)	XP_005271471.1:n.*39-496_*39-463del
XM_005271415.4:c.805-496_805-463del (C11orf65)	XP_005271472.1:n.805-496_805-463del
XM_005271562.5:c.7783_7788+28del (ATM)
XM_006718843.4:c.7783_7788+28del (ATM)
XM_006718845.2:c.3739_3744+28del (ATM)
XM_011542840.3:c.7783_7788+28del (ATM)
XM_011542842.3:c.7618_7623+28del (ATM)
XM_011542843.2:c.7783_7788+28del (ATM)
XM_011542844.3:c.6739_6744+28del (ATM)
XM_011542845.2:c.6475_6480+28del (ATM)
XM_017017789.2:c.7783_7788+28del (ATM)
XM_017017790.2:c.7783_7788+28del (ATM)
NM_001330368.2:c.641-22992_641-22959del (C11orf65)	NP_001317297.1:n.641-22992_641-22959del
NM_001351110.2:c.*38+3157_*38+3190del (C11orf65)	NP_001338039.1:n.*38+3157_*38+3190del
NM_001351834.2:c.7783_7788+28del (ATM)
NM_000051.4:c.7783_7788+28del (ATM)
NR_147053.3:n.2373-496_2373-463del (C11orf65)