Canonical Allele Identifier: CA915948279

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 656093
• ClinVar RCV Id: RCV000812417 ; RCV004028770
• dbSNP Id: rs1591152021

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329198_108329201delinsTAC , CM000673.2:g.108329198_108329201delinsTAC	GRCh38
NC_000011.9:g.108199925_108199928delinsTAC , CM000673.1:g.108199925_108199928delinsTAC	GRCh37
NC_000011.8:g.107705135_107705138delinsTAC	NCBI36
NG_009830.1:g.111367_111370delinsTAC , LRG_135:g.111367_111370delinsTAC
NG_054724.1:g.145632_145635delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7267_7270delinsTAC (ATM)	ENSP00000388058.2:p.Glu2423TyrfsTer2
ENST00000713593.1:c.*6738_*6741delinsTAC (ATM)	ENSP00000518889.1:n.*6738_*6741delinsTAC
ENST00000278616.9:c.7267_7270delinsTAC (ATM)	ENSP00000278616.4:p.Glu2423TyrfsTer2
ENST00000525056.2:n.1686_1689delinsTAC (ATM)
ENST00000525537.3:n.224_227delinsTAC (ATM)
ENST00000638786.2:n.104_107delinsTAC (ATM)
ENST00000682286.1:n.2024_2027delinsTAC (ATM)
ENST00000682302.1:n.1685_1688delinsTAC (ATM)
ENST00000683174.1:n.8751_8754delinsTAC (ATM)
ENST00000683524.1:n.2491_2494delinsTAC (ATM)
ENST00000684152.1:n.2981_2984delinsTAC (ATM)
ENST00000684447.1:n.1730_1733delinsTAC (ATM)
ENST00000527805.6:c.*2331_*2334delinsTAC (ATM)	ENSP00000435747.2:n.*2331_*2334delinsTAC
ENST00000675595.1:c.*2402_*2405delinsTAC (ATM)	ENSP00000502563.1:n.*2402_*2405delinsTAC
ENST00000675843.1:c.7267_7270delinsTAC (ATM) MANE Select	ENSP00000501606.1:p.Glu2423TyrfsTer2
ENST00000278616.8:c.7267_7270delinsTAC (ATM)	ENSP00000278616.4:p.Glu2423TyrfsTer2
ENST00000452508.6:c.7267_7270delinsTAC (ATM)	ENSP00000388058.2:p.Glu2423TyrfsTer2
ENST00000524792.5:n.3482_3485delinsTAC (ATM)
ENST00000525537.2:n.543_546delinsTAC (ATM)
ENST00000525729.5:c.641-20130_641-20127delinsGTA (C11orf65)	ENSP00000433395.1:n.641-20130_641-20127delinsGTA
ENST00000527389.2:n.292_295delinsTAC (ATM)
ENST00000533690.5:n.2671_2674delinsTAC (ATM)
NM_000051.3:c.7267_7270delinsTAC , LRG_135t1:c.7267_7270delinsTAC (ATM)	NP_000042.3:p.Glu2423TyrfsTer2
XM_005271561.3:c.7267_7270delinsTAC (ATM)	XP_005271618.2:p.Glu2423TyrfsTer2
XM_005271562.3:c.7267_7270delinsTAC (ATM)	XP_005271619.2:p.Glu2423TyrfsTer2
XM_006718843.2:c.7267_7270delinsTAC (ATM)	XP_006718906.1:p.Glu2423TyrfsTer2
XM_006718845.1:c.3223_3226delinsTAC (ATM)	XP_006718908.1:p.Glu1075TyrfsTer2
XM_011542840.1:c.7267_7270delinsTAC (ATM)	XP_011541142.1:p.Glu2423TyrfsTer2
XM_011542841.1:c.7267_7270delinsTAC (ATM)	XP_011541143.1:p.Glu2423TyrfsTer2
XM_011542842.1:c.7102_7105delinsTAC (ATM)	XP_011541144.1:p.Glu2368TyrfsTer2
XM_011542843.1:c.7267_7270delinsTAC (ATM)	XP_011541145.1:p.Glu2423TyrfsTer2
XM_011542844.1:c.6223_6226delinsTAC (ATM)	XP_011541146.1:p.Glu2075TyrfsTer2
XM_011542845.1:c.5959_5962delinsTAC (ATM)	XP_011541147.1:p.Glu1987TyrfsTer2
XM_011542847.1:c.2338_2341delinsTAC (ATM)	XP_011541149.1:p.Glu780TyrfsTer2
NM_001330368.1:c.641-20130_641-20127delinsGTA (C11orf65)	NP_001317297.1:n.641-20130_641-20127delinsGTA
NM_001351110.1:c.*38+6019_*38+6022delinsGTA (C11orf65)	NP_001338039.1:n.*38+6019_*38+6022delinsGTA
NM_001351834.1:c.7267_7270delinsTAC (ATM)	NP_001338763.1:p.Glu2423TyrfsTer2
XM_005271562.5:c.7267_7270delinsTAC (ATM)	XP_005271619.2:p.Glu2423TyrfsTer2
XM_006718843.4:c.7267_7270delinsTAC (ATM)	XP_006718906.1:p.Glu2423TyrfsTer2
XM_006718845.2:c.3223_3226delinsTAC (ATM)	XP_006718908.1:p.Glu1075TyrfsTer2
XM_011542840.3:c.7267_7270delinsTAC (ATM)	XP_011541142.1:p.Glu2423TyrfsTer2
XM_011542842.3:c.7102_7105delinsTAC (ATM)	XP_011541144.1:p.Glu2368TyrfsTer2
XM_011542843.2:c.7267_7270delinsTAC (ATM)	XP_011541145.1:p.Glu2423TyrfsTer2
XM_011542844.3:c.6223_6226delinsTAC (ATM)	XP_011541146.1:p.Glu2075TyrfsTer2
XM_011542845.2:c.5959_5962delinsTAC (ATM)	XP_011541147.1:p.Glu1987TyrfsTer2
XM_017017789.2:c.7267_7270delinsTAC (ATM)	XP_016873278.1:p.Glu2423TyrfsTer2
XM_017017790.2:c.7267_7270delinsTAC (ATM)	XP_016873279.1:p.Glu2423TyrfsTer2
NM_001330368.2:c.641-20130_641-20127delinsGTA (C11orf65)	NP_001317297.1:n.641-20130_641-20127delinsGTA
NM_001351110.2:c.*38+6019_*38+6022delinsGTA (C11orf65)	NP_001338039.1:n.*38+6019_*38+6022delinsGTA
NM_001351834.2:c.7267_7270delinsTAC (ATM)	NP_001338763.1:p.Glu2423TyrfsTer2
NM_000051.4:c.7267_7270delinsTAC (ATM) MANE Select	NP_000042.3:p.Glu2423TyrfsTer2