Canonical Allele Identifier: CA1998809716

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327753_108327754delinsGA , CM000673.2:g.108327753_108327754delinsGA	GRCh38
NC_000011.9:g.108198480_108198481delinsGA , CM000673.1:g.108198480_108198481delinsGA	GRCh37
NC_000011.8:g.107703690_107703691delinsGA	NCBI36
NG_009830.1:g.109922_109923delinsGA , LRG_135:g.109922_109923delinsGA
NG_054724.1:g.147079_147080delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7084_7085delinsGA (ATM)	ENSP00000388058.2:p.Glu2362=
ENST00000713593.1:c.*6555_*6556delinsGA (ATM)	ENSP00000518889.1:n.*6555_*6556delinsGA
ENST00000278616.9:c.7084_7085delinsGA (ATM)	ENSP00000278616.4:p.Glu2362=
ENST00000525056.2:n.1503_1504delinsGA (ATM)
ENST00000525537.3:n.41_42delinsGA (ATM)
ENST00000682286.1:n.1841_1842delinsGA (ATM)
ENST00000682302.1:n.1502_1503delinsGA (ATM)
ENST00000683174.1:n.8568_8569delinsGA (ATM)
ENST00000683524.1:n.2308_2309delinsGA (ATM)
ENST00000684152.1:n.2798_2799delinsGA (ATM)
ENST00000684447.1:n.1547_1548delinsGA (ATM)
ENST00000527805.6:c.*2148_*2149delinsGA (ATM)	ENSP00000435747.2:n.*2148_*2149delinsGA
ENST00000675595.1:c.*2219_*2220delinsGA (ATM)	ENSP00000502563.1:n.*2219_*2220delinsGA
ENST00000675843.1:c.7084_7085delinsGA (ATM) MANE Select	ENSP00000501606.1:p.Glu2362=
ENST00000278616.8:c.7084_7085delinsGA (ATM)	ENSP00000278616.4:p.Glu2362=
ENST00000452508.6:c.7084_7085delinsGA (ATM)	ENSP00000388058.2:p.Glu2362=
ENST00000524792.5:n.3299_3300delinsGA (ATM)
ENST00000525537.2:n.360_361delinsGA (ATM)
ENST00000525729.5:c.641-18683_641-18682delinsTC (C11orf65)	ENSP00000433395.1:n.641-18683_641-18682delinsTC
ENST00000527389.2:n.109_110delinsGA (ATM)
ENST00000533690.5:n.2488_2489delinsGA (ATM)
NM_000051.3:c.7084_7085delinsGA , LRG_135t1:c.7084_7085delinsGA (ATM)	NP_000042.3:p.Glu2362=
XM_005271561.3:c.7084_7085delinsGA (ATM)	XP_005271618.2:p.Glu2362=
XM_005271562.3:c.7084_7085delinsGA (ATM)	XP_005271619.2:p.Glu2362=
XM_006718843.2:c.7084_7085delinsGA (ATM)	XP_006718906.1:p.Glu2362=
XM_006718845.1:c.3040_3041delinsGA (ATM)	XP_006718908.1:p.Glu1014=
XM_011542840.1:c.7084_7085delinsGA (ATM)	XP_011541142.1:p.Glu2362=
XM_011542841.1:c.7084_7085delinsGA (ATM)	XP_011541143.1:p.Glu2362=
XM_011542842.1:c.6919_6920delinsGA (ATM)	XP_011541144.1:p.Glu2307=
XM_011542843.1:c.7084_7085delinsGA (ATM)	XP_011541145.1:p.Glu2362=
XM_011542844.1:c.6040_6041delinsGA (ATM)	XP_011541146.1:p.Glu2014=
XM_011542845.1:c.5776_5777delinsGA (ATM)	XP_011541147.1:p.Glu1926=
XM_011542847.1:c.2155_2156delinsGA (ATM)	XP_011541149.1:p.Glu719=
NM_001330368.1:c.641-18683_641-18682delinsTC (C11orf65)	NP_001317297.1:n.641-18683_641-18682delinsTC
NM_001351110.1:c.*38+7466_*38+7467delinsTC (C11orf65)	NP_001338039.1:n.*38+7466_*38+7467delinsTC
NM_001351834.1:c.7084_7085delinsGA (ATM)	NP_001338763.1:p.Glu2362=
XM_005271562.5:c.7084_7085delinsGA (ATM)	XP_005271619.2:p.Glu2362=
XM_006718843.4:c.7084_7085delinsGA (ATM)	XP_006718906.1:p.Glu2362=
XM_006718845.2:c.3040_3041delinsGA (ATM)	XP_006718908.1:p.Glu1014=
XM_011542840.3:c.7084_7085delinsGA (ATM)	XP_011541142.1:p.Glu2362=
XM_011542842.3:c.6919_6920delinsGA (ATM)	XP_011541144.1:p.Glu2307=
XM_011542843.2:c.7084_7085delinsGA (ATM)	XP_011541145.1:p.Glu2362=
XM_011542844.3:c.6040_6041delinsGA (ATM)	XP_011541146.1:p.Glu2014=
XM_011542845.2:c.5776_5777delinsGA (ATM)	XP_011541147.1:p.Glu1926=
XM_017017789.2:c.7084_7085delinsGA (ATM)	XP_016873278.1:p.Glu2362=
XM_017017790.2:c.7084_7085delinsGA (ATM)	XP_016873279.1:p.Glu2362=
NM_001330368.2:c.641-18683_641-18682delinsTC (C11orf65)	NP_001317297.1:n.641-18683_641-18682delinsTC
NM_001351110.2:c.*38+7466_*38+7467delinsTC (C11orf65)	NP_001338039.1:n.*38+7466_*38+7467delinsTC
NM_001351834.2:c.7084_7085delinsGA (ATM)	NP_001338763.1:p.Glu2362=
NM_000051.4:c.7084_7085delinsGA (ATM) MANE Select	NP_000042.3:p.Glu2362=