Canonical Allele Identifier: CA2615859319

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108326116-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326117_108326118insTT , CM000673.2:g.108326117_108326118insTT	GRCh38
NC_000011.9:g.108196844_108196845insTT , CM000673.1:g.108196844_108196845insTT	GRCh37
NC_000011.8:g.107702054_107702055insTT	NCBI36
NG_009830.1:g.108286_108287insTT , LRG_135:g.108286_108287insTT
NG_054724.1:g.148716_148717insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6867_6868insTT (ATM)	ENSP00000388058.2:p.Glu2290LeufsTer21
ENST00000713593.1:c.*6338_*6339insTT (ATM)	ENSP00000518889.1:n.*6338_*6339insTT
ENST00000278616.9:c.6867_6868insTT (ATM)	ENSP00000278616.4:p.Glu2290LeufsTer21
ENST00000525056.2:n.1286_1287insTT (ATM)
ENST00000682286.1:n.1624_1625insTT (ATM)
ENST00000682302.1:n.1285_1286insTT (ATM)
ENST00000683174.1:n.8351_8352insTT (ATM)
ENST00000683524.1:n.2091_2092insTT (ATM)
ENST00000684152.1:n.2581_2582insTT (ATM)
ENST00000527805.6:c.*1931_*1932insTT (ATM)	ENSP00000435747.2:n.*1931_*1932insTT
ENST00000675595.1:c.*2002_*2003insTT (ATM)	ENSP00000502563.1:n.*2002_*2003insTT
ENST00000675843.1:c.6867_6868insTT (ATM) MANE Select	ENSP00000501606.1:p.Glu2290LeufsTer21
ENST00000278616.8:c.6867_6868insTT (ATM)	ENSP00000278616.4:p.Glu2290LeufsTer21
ENST00000452508.6:c.6867_6868insTT (ATM)	ENSP00000388058.2:p.Glu2290LeufsTer21
ENST00000524792.5:n.3082_3083insTT (ATM)
ENST00000525729.5:c.641-17046_641-17045insAA (C11orf65)	ENSP00000433395.1:n.641-17046_641-17045insAA
ENST00000533690.5:n.2271_2272insTT (ATM)
NM_000051.3:c.6867_6868insTT , LRG_135t1:c.6867_6868insTT (ATM)	NP_000042.3:p.Glu2290LeufsTer21
XM_005271561.3:c.6867_6868insTT (ATM)	XP_005271618.2:p.Glu2290LeufsTer21
XM_005271562.3:c.6867_6868insTT (ATM)	XP_005271619.2:p.Glu2290LeufsTer21
XM_006718843.2:c.6867_6868insTT (ATM)	XP_006718906.1:p.Glu2290LeufsTer21
XM_006718845.1:c.2823_2824insTT (ATM)	XP_006718908.1:p.Glu942LeufsTer21
XM_011542840.1:c.6867_6868insTT (ATM)	XP_011541142.1:p.Glu2290LeufsTer21
XM_011542841.1:c.6867_6868insTT (ATM)	XP_011541143.1:p.Glu2290LeufsTer21
XM_011542842.1:c.6702_6703insTT (ATM)	XP_011541144.1:p.Glu2235LeufsTer21
XM_011542843.1:c.6867_6868insTT (ATM)	XP_011541145.1:p.Glu2290LeufsTer21
XM_011542844.1:c.5823_5824insTT (ATM)	XP_011541146.1:p.Glu1942LeufsTer21
XM_011542845.1:c.5559_5560insTT (ATM)	XP_011541147.1:p.Glu1854LeufsTer21
XM_011542847.1:c.1938_1939insTT (ATM)	XP_011541149.1:p.Glu647LeufsTer21
NM_001330368.1:c.641-17046_641-17045insAA (C11orf65)	NP_001317297.1:n.641-17046_641-17045insAA
NM_001351110.1:c.*38+9103_*38+9104insAA (C11orf65)	NP_001338039.1:n.*38+9103_*38+9104insAA
NM_001351834.1:c.6867_6868insTT (ATM)	NP_001338763.1:p.Glu2290LeufsTer21
XM_005271562.5:c.6867_6868insTT (ATM)	XP_005271619.2:p.Glu2290LeufsTer21
XM_006718843.4:c.6867_6868insTT (ATM)	XP_006718906.1:p.Glu2290LeufsTer21
XM_006718845.2:c.2823_2824insTT (ATM)	XP_006718908.1:p.Glu942LeufsTer21
XM_011542840.3:c.6867_6868insTT (ATM)	XP_011541142.1:p.Glu2290LeufsTer21
XM_011542842.3:c.6702_6703insTT (ATM)	XP_011541144.1:p.Glu2235LeufsTer21
XM_011542843.2:c.6867_6868insTT (ATM)	XP_011541145.1:p.Glu2290LeufsTer21
XM_011542844.3:c.5823_5824insTT (ATM)	XP_011541146.1:p.Glu1942LeufsTer21
XM_011542845.2:c.5559_5560insTT (ATM)	XP_011541147.1:p.Glu1854LeufsTer21
XM_017017789.2:c.6867_6868insTT (ATM)	XP_016873278.1:p.Glu2290LeufsTer21
XM_017017790.2:c.6867_6868insTT (ATM)	XP_016873279.1:p.Glu2290LeufsTer21
NM_001330368.2:c.641-17046_641-17045insAA (C11orf65)	NP_001317297.1:n.641-17046_641-17045insAA
NM_001351110.2:c.*38+9103_*38+9104insAA (C11orf65)	NP_001338039.1:n.*38+9103_*38+9104insAA
NM_001351834.2:c.6867_6868insTT (ATM)	NP_001338763.1:p.Glu2290LeufsTer21
NM_000051.4:c.6867_6868insTT (ATM) MANE Select	NP_000042.3:p.Glu2290LeufsTer21