Canonical Allele Identifier: CA1998811288

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332821_108332830delinsGGTCAGAAGT , CM000673.2:g.108332821_108332830delinsGGTCAGAAGT	GRCh38
NC_000011.9:g.108203548_108203557delinsGGTCAGAAGT , CM000673.1:g.108203548_108203557delinsGGTCAGAAGT	GRCh37
NC_000011.8:g.107708758_107708767delinsGGTCAGAAGT	NCBI36
NG_009830.1:g.114990_114999delinsGGTCAGAAGT , LRG_135:g.114990_114999delinsGGTCAGAAGT
NG_054724.1:g.142003_142012delinsACTTCTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7848_7857delinsGGTCAGAAGT (ATM)	ENSP00000388058.2:p.Met2616=
ENST00000713593.1:c.*7319_*7328delinsGGTCAGAAGT (ATM)	ENSP00000518889.1:n.*7319_*7328delinsGGTCAGAAGT
ENST00000278616.9:c.7848_7857delinsGGTCAGAAGT (ATM)	ENSP00000278616.4:p.Met2616=
ENST00000525056.2:n.2267_2276delinsGGTCAGAAGT (ATM)
ENST00000525537.3:n.1529_1538delinsGGTCAGAAGT (ATM)
ENST00000638786.2:n.625+784_625+793delinsGGTCAGAAGT (ATM)
ENST00000682286.1:n.2605_2614delinsGGTCAGAAGT (ATM)
ENST00000682302.1:n.2266_2275delinsGGTCAGAAGT (ATM)
ENST00000683174.1:n.9332_9341delinsGGTCAGAAGT (ATM)
ENST00000683524.1:n.3072_3081delinsGGTCAGAAGT (ATM)
ENST00000684152.1:n.3344-1065_3344-1056delinsGGTCAGAAGT (ATM)
ENST00000684180.1:n.322_331delinsGGTCAGAAGT (ATM)
ENST00000684447.1:n.3356_3365delinsGGTCAGAAGT (ATM)
ENST00000527805.6:c.*2912_*2921delinsGGTCAGAAGT (ATM)	ENSP00000435747.2:n.*2912_*2921delinsGGTCAGAAGT
ENST00000675595.1:c.*2983_*2992delinsGGTCAGAAGT (ATM)	ENSP00000502563.1:n.*2983_*2992delinsGGTCAGAAGT
ENST00000675843.1:c.7848_7857delinsGGTCAGAAGT (ATM) MANE Select	ENSP00000501606.1:p.Met2616=
ENST00000278616.8:c.7848_7857delinsGGTCAGAAGT (ATM)	ENSP00000278616.4:p.Met2616=
ENST00000452508.6:c.7848_7857delinsGGTCAGAAGT (ATM)	ENSP00000388058.2:p.Met2616=
ENST00000524755.5:c.300-1263_300-1254delinsACTTCTGACC (C11orf65)
ENST00000524792.5:n.4063_4072delinsGGTCAGAAGT (ATM)
ENST00000525056.1:n.45_54delinsGGTCAGAAGT (ATM)
ENST00000525729.5:c.641-23759_641-23750delinsACTTCTGACC (C11orf65)	ENSP00000433395.1:n.641-23759_641-23750delinsACTTCTGACC
ENST00000527531.5:c.*1270-1263_*1270-1254delinsACTTCTGACC (C11orf65)	ENSP00000431706.1:n.*1270-1263_*1270-1254delinsACTTCTGACC
ENST00000533690.5:n.3252_3261delinsGGTCAGAAGT (ATM)
ENST00000533979.5:n.60_69delinsGGTCAGAAGT (ATM)
ENST00000615746.4:c.*1270-1263_*1270-1254delinsACTTCTGACC (C11orf65)	ENSP00000483537.1:n.*1270-1263_*1270-1254delinsACTTCTGACC
NM_000051.3:c.7848_7857delinsGGTCAGAAGT , LRG_135t1:c.7848_7857delinsGGTCAGAAGT (ATM)	NP_000042.3:p.Met2616=
XM_005271414.3:c.*39-1263_*39-1254delinsACTTCTGACC (C11orf65)	XP_005271471.1:n.*39-1263_*39-1254delinsACTTCTGACC
XM_005271415.3:c.805-1263_805-1254delinsACTTCTGACC (C11orf65)	XP_005271472.1:n.805-1263_805-1254delinsACTTCTGACC
XM_005271561.3:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_005271618.2:p.Met2616=
XM_005271562.3:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_005271619.2:p.Met2616=
XM_006718843.2:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_006718906.1:p.Met2616=
XM_006718845.1:c.3804_3813delinsGGTCAGAAGT (ATM)	XP_006718908.1:p.Met1268=
XM_011542840.1:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_011541142.1:p.Met2616=
XM_011542841.1:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_011541143.1:p.Met2616=
XM_011542842.1:c.7683_7692delinsGGTCAGAAGT (ATM)	XP_011541144.1:p.Met2561=
XM_011542843.1:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_011541145.1:p.Met2616=
XM_011542844.1:c.6804_6813delinsGGTCAGAAGT (ATM)	XP_011541146.1:p.Met2268=
XM_011542845.1:c.6540_6549delinsGGTCAGAAGT (ATM)	XP_011541147.1:p.Met2180=
XM_011542847.1:c.2919_2928delinsGGTCAGAAGT (ATM)	XP_011541149.1:p.Met973=
NM_001330368.1:c.641-23759_641-23750delinsACTTCTGACC (C11orf65)	NP_001317297.1:n.641-23759_641-23750delinsACTTCTGACC
NM_001351110.1:c.*38+2390_*38+2399delinsACTTCTGACC (C11orf65)	NP_001338039.1:n.*38+2390_*38+2399delinsACTTCTGACC
NM_001351834.1:c.7848_7857delinsGGTCAGAAGT (ATM)	NP_001338763.1:p.Met2616=
NR_147053.2:n.2375-1263_2375-1254delinsACTTCTGACC (C11orf65)
XM_005271414.4:c.*39-1263_*39-1254delinsACTTCTGACC (C11orf65)	XP_005271471.1:n.*39-1263_*39-1254delinsACTTCTGACC
XM_005271415.4:c.805-1263_805-1254delinsACTTCTGACC (C11orf65)	XP_005271472.1:n.805-1263_805-1254delinsACTTCTGACC
XM_005271562.5:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_005271619.2:p.Met2616=
XM_006718843.4:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_006718906.1:p.Met2616=
XM_006718845.2:c.3804_3813delinsGGTCAGAAGT (ATM)	XP_006718908.1:p.Met1268=
XM_011542840.3:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_011541142.1:p.Met2616=
XM_011542842.3:c.7683_7692delinsGGTCAGAAGT (ATM)	XP_011541144.1:p.Met2561=
XM_011542843.2:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_011541145.1:p.Met2616=
XM_011542844.3:c.6804_6813delinsGGTCAGAAGT (ATM)	XP_011541146.1:p.Met2268=
XM_011542845.2:c.6540_6549delinsGGTCAGAAGT (ATM)	XP_011541147.1:p.Met2180=
XM_017017789.2:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_016873278.1:p.Met2616=
XM_017017790.2:c.7848_7857delinsGGTCAGAAGT (ATM)	XP_016873279.1:p.Met2616=
NM_001330368.2:c.641-23759_641-23750delinsACTTCTGACC (C11orf65)	NP_001317297.1:n.641-23759_641-23750delinsACTTCTGACC
NM_001351110.2:c.*38+2390_*38+2399delinsACTTCTGACC (C11orf65)	NP_001338039.1:n.*38+2390_*38+2399delinsACTTCTGACC
NM_001351834.2:c.7848_7857delinsGGTCAGAAGT (ATM)	NP_001338763.1:p.Met2616=
NM_000051.4:c.7848_7857delinsGGTCAGAAGT (ATM) MANE Select	NP_000042.3:p.Met2616=
NR_147053.3:n.2373-1263_2373-1254delinsACTTCTGACC (C11orf65)