Canonical Allele Identifier: CA1998809556

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327664_108327668delinsTTACA , CM000673.2:g.108327664_108327668delinsTTACA	GRCh38
NC_000011.9:g.108198391_108198395delinsTTACA , CM000673.1:g.108198391_108198395delinsTTACA	GRCh37
NC_000011.8:g.107703601_107703605delinsTTACA	NCBI36
NG_009830.1:g.109833_109837delinsTTACA , LRG_135:g.109833_109837delinsTTACA
NG_054724.1:g.147165_147169delinsTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6995_6999delinsTTACA (ATM)	ENSP00000388058.2:p.Leu2332=
ENST00000713593.1:c.*6466_*6470delinsTTACA (ATM)	ENSP00000518889.1:n.*6466_*6470delinsTTACA
ENST00000278616.9:c.6995_6999delinsTTACA (ATM)	ENSP00000278616.4:p.Leu2332=
ENST00000525056.2:n.1414_1418delinsTTACA (ATM)
ENST00000682286.1:n.1752_1756delinsTTACA (ATM)
ENST00000682302.1:n.1413_1417delinsTTACA (ATM)
ENST00000683174.1:n.8479_8483delinsTTACA (ATM)
ENST00000683524.1:n.2219_2223delinsTTACA (ATM)
ENST00000684152.1:n.2709_2713delinsTTACA (ATM)
ENST00000684447.1:n.1458_1462delinsTTACA (ATM)
ENST00000527805.6:c.*2059_*2063delinsTTACA (ATM)	ENSP00000435747.2:n.*2059_*2063delinsTTACA
ENST00000675595.1:c.*2130_*2134delinsTTACA (ATM)	ENSP00000502563.1:n.*2130_*2134delinsTTACA
ENST00000675843.1:c.6995_6999delinsTTACA (ATM) MANE Select	ENSP00000501606.1:p.Leu2332=
ENST00000278616.8:c.6995_6999delinsTTACA (ATM)	ENSP00000278616.4:p.Leu2332=
ENST00000452508.6:c.6995_6999delinsTTACA (ATM)	ENSP00000388058.2:p.Leu2332=
ENST00000524792.5:n.3210_3214delinsTTACA (ATM)
ENST00000525537.2:n.271_275delinsTTACA (ATM)
ENST00000525729.5:c.641-18597_641-18593delinsTGTAA (C11orf65)	ENSP00000433395.1:n.641-18597_641-18593delinsTGTAA
ENST00000527389.2:n.20_24delinsTTACA (ATM)
ENST00000533690.5:n.2399_2403delinsTTACA (ATM)
NM_000051.3:c.6995_6999delinsTTACA , LRG_135t1:c.6995_6999delinsTTACA (ATM)	NP_000042.3:p.Leu2332=
XM_005271561.3:c.6995_6999delinsTTACA (ATM)	XP_005271618.2:p.Leu2332=
XM_005271562.3:c.6995_6999delinsTTACA (ATM)	XP_005271619.2:p.Leu2332=
XM_006718843.2:c.6995_6999delinsTTACA (ATM)	XP_006718906.1:p.Leu2332=
XM_006718845.1:c.2951_2955delinsTTACA (ATM)	XP_006718908.1:p.Leu984=
XM_011542840.1:c.6995_6999delinsTTACA (ATM)	XP_011541142.1:p.Leu2332=
XM_011542841.1:c.6995_6999delinsTTACA (ATM)	XP_011541143.1:p.Leu2332=
XM_011542842.1:c.6830_6834delinsTTACA (ATM)	XP_011541144.1:p.Leu2277=
XM_011542843.1:c.6995_6999delinsTTACA (ATM)	XP_011541145.1:p.Leu2332=
XM_011542844.1:c.5951_5955delinsTTACA (ATM)	XP_011541146.1:p.Leu1984=
XM_011542845.1:c.5687_5691delinsTTACA (ATM)	XP_011541147.1:p.Leu1896=
XM_011542847.1:c.2066_2070delinsTTACA (ATM)	XP_011541149.1:p.Leu689=
NM_001330368.1:c.641-18597_641-18593delinsTGTAA (C11orf65)	NP_001317297.1:n.641-18597_641-18593delinsTGTAA
NM_001351110.1:c.*38+7552_*38+7556delinsTGTAA (C11orf65)	NP_001338039.1:n.*38+7552_*38+7556delinsTGTAA
NM_001351834.1:c.6995_6999delinsTTACA (ATM)	NP_001338763.1:p.Leu2332=
XM_005271562.5:c.6995_6999delinsTTACA (ATM)	XP_005271619.2:p.Leu2332=
XM_006718843.4:c.6995_6999delinsTTACA (ATM)	XP_006718906.1:p.Leu2332=
XM_006718845.2:c.2951_2955delinsTTACA (ATM)	XP_006718908.1:p.Leu984=
XM_011542840.3:c.6995_6999delinsTTACA (ATM)	XP_011541142.1:p.Leu2332=
XM_011542842.3:c.6830_6834delinsTTACA (ATM)	XP_011541144.1:p.Leu2277=
XM_011542843.2:c.6995_6999delinsTTACA (ATM)	XP_011541145.1:p.Leu2332=
XM_011542844.3:c.5951_5955delinsTTACA (ATM)	XP_011541146.1:p.Leu1984=
XM_011542845.2:c.5687_5691delinsTTACA (ATM)	XP_011541147.1:p.Leu1896=
XM_017017789.2:c.6995_6999delinsTTACA (ATM)	XP_016873278.1:p.Leu2332=
XM_017017790.2:c.6995_6999delinsTTACA (ATM)	XP_016873279.1:p.Leu2332=
NM_001330368.2:c.641-18597_641-18593delinsTGTAA (C11orf65)	NP_001317297.1:n.641-18597_641-18593delinsTGTAA
NM_001351110.2:c.*38+7552_*38+7556delinsTGTAA (C11orf65)	NP_001338039.1:n.*38+7552_*38+7556delinsTGTAA
NM_001351834.2:c.6995_6999delinsTTACA (ATM)	NP_001338763.1:p.Leu2332=
NM_000051.4:c.6995_6999delinsTTACA (ATM) MANE Select	NP_000042.3:p.Leu2332=