Canonical Allele Identifier: CA912970733

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108203495_108203496del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332769_108332770del , CM000673.2:g.108332769_108332770del	GRCh38
NC_000011.9:g.108203496_108203497del , CM000673.1:g.108203496_108203497del	GRCh37
NC_000011.8:g.107708706_107708707del	NCBI36
NG_009830.1:g.114938_114939del , LRG_135:g.114938_114939del
NG_054724.1:g.142064_142065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7796_7797del (ATM)	ENSP00000388058.2:p.Thr2599ArgfsTer5
ENST00000713593.1:c.*7267_*7268del (ATM)	ENSP00000518889.1:n.*7267_*7268del
ENST00000278616.9:c.7796_7797del (ATM)	ENSP00000278616.4:p.Thr2599ArgfsTer5
ENST00000525056.2:n.2215_2216del (ATM)
ENST00000525537.3:n.1477_1478del (ATM)
ENST00000638786.2:n.625+732_625+733del (ATM)
ENST00000682286.1:n.2553_2554del (ATM)
ENST00000682302.1:n.2214_2215del (ATM)
ENST00000683174.1:n.9280_9281del (ATM)
ENST00000683524.1:n.3020_3021del (ATM)
ENST00000684152.1:n.3344-1117_3344-1116del (ATM)
ENST00000684180.1:n.270_271del (ATM)
ENST00000684447.1:n.3304_3305del (ATM)
ENST00000527805.6:c.*2860_*2861del (ATM)	ENSP00000435747.2:n.*2860_*2861del
ENST00000675595.1:c.*2931_*2932del (ATM)	ENSP00000502563.1:n.*2931_*2932del
ENST00000675843.1:c.7796_7797del (ATM) MANE Select	ENSP00000501606.1:p.Thr2599ArgfsTer5
ENST00000278616.8:c.7796_7797del (ATM)	ENSP00000278616.4:p.Thr2599ArgfsTer5
ENST00000452508.6:c.7796_7797del (ATM)	ENSP00000388058.2:p.Thr2599ArgfsTer5
ENST00000524755.5:c.300-1202_300-1201del (C11orf65)
ENST00000524792.5:n.4011_4012del (ATM)
ENST00000525729.5:c.641-23698_641-23697del (C11orf65)	ENSP00000433395.1:n.641-23698_641-23697del
ENST00000527531.5:c.*1270-1202_*1270-1201del (C11orf65)	ENSP00000431706.1:n.*1270-1202_*1270-1201del
ENST00000533690.5:n.3200_3201del (ATM)
ENST00000533979.5:n.8_9del (ATM)
ENST00000615746.4:c.*1270-1202_*1270-1201del (C11orf65)	ENSP00000483537.1:n.*1270-1202_*1270-1201del
NM_000051.3:c.7796_7797del , LRG_135t1:c.7796_7797del (ATM)	NP_000042.3:p.Thr2599ArgfsTer5
XM_005271414.3:c.*39-1202_*39-1201del (C11orf65)	XP_005271471.1:n.*39-1202_*39-1201del
XM_005271415.3:c.805-1202_805-1201del (C11orf65)	XP_005271472.1:n.805-1202_805-1201del
XM_005271561.3:c.7796_7797del (ATM)	XP_005271618.2:p.Thr2599ArgfsTer5
XM_005271562.3:c.7796_7797del (ATM)	XP_005271619.2:p.Thr2599ArgfsTer5
XM_006718843.2:c.7796_7797del (ATM)	XP_006718906.1:p.Thr2599ArgfsTer5
XM_006718845.1:c.3752_3753del (ATM)	XP_006718908.1:p.Thr1251ArgfsTer5
XM_011542840.1:c.7796_7797del (ATM)	XP_011541142.1:p.Thr2599ArgfsTer5
XM_011542841.1:c.7796_7797del (ATM)	XP_011541143.1:p.Thr2599ArgfsTer5
XM_011542842.1:c.7631_7632del (ATM)	XP_011541144.1:p.Thr2544ArgfsTer5
XM_011542843.1:c.7796_7797del (ATM)	XP_011541145.1:p.Thr2599ArgfsTer5
XM_011542844.1:c.6752_6753del (ATM)	XP_011541146.1:p.Thr2251ArgfsTer5
XM_011542845.1:c.6488_6489del (ATM)	XP_011541147.1:p.Thr2163ArgfsTer5
XM_011542847.1:c.2867_2868del (ATM)	XP_011541149.1:p.Thr956ArgfsTer5
NM_001330368.1:c.641-23698_641-23697del (C11orf65)	NP_001317297.1:n.641-23698_641-23697del
NM_001351110.1:c.*38+2451_*38+2452del (C11orf65)	NP_001338039.1:n.*38+2451_*38+2452del
NM_001351834.1:c.7796_7797del (ATM)	NP_001338763.1:p.Thr2599ArgfsTer5
NR_147053.2:n.2375-1202_2375-1201del (C11orf65)
XM_005271414.4:c.*39-1202_*39-1201del (C11orf65)	XP_005271471.1:n.*39-1202_*39-1201del
XM_005271415.4:c.805-1202_805-1201del (C11orf65)	XP_005271472.1:n.805-1202_805-1201del
XM_005271562.5:c.7796_7797del (ATM)	XP_005271619.2:p.Thr2599ArgfsTer5
XM_006718843.4:c.7796_7797del (ATM)	XP_006718906.1:p.Thr2599ArgfsTer5
XM_006718845.2:c.3752_3753del (ATM)	XP_006718908.1:p.Thr1251ArgfsTer5
XM_011542840.3:c.7796_7797del (ATM)	XP_011541142.1:p.Thr2599ArgfsTer5
XM_011542842.3:c.7631_7632del (ATM)	XP_011541144.1:p.Thr2544ArgfsTer5
XM_011542843.2:c.7796_7797del (ATM)	XP_011541145.1:p.Thr2599ArgfsTer5
XM_011542844.3:c.6752_6753del (ATM)	XP_011541146.1:p.Thr2251ArgfsTer5
XM_011542845.2:c.6488_6489del (ATM)	XP_011541147.1:p.Thr2163ArgfsTer5
XM_017017789.2:c.7796_7797del (ATM)	XP_016873278.1:p.Thr2599ArgfsTer5
XM_017017790.2:c.7796_7797del (ATM)	XP_016873279.1:p.Thr2599ArgfsTer5
NM_001330368.2:c.641-23698_641-23697del (C11orf65)	NP_001317297.1:n.641-23698_641-23697del
NM_001351110.2:c.*38+2451_*38+2452del (C11orf65)	NP_001338039.1:n.*38+2451_*38+2452del
NM_001351834.2:c.7796_7797del (ATM)	NP_001338763.1:p.Thr2599ArgfsTer5
NM_000051.4:c.7796_7797del (ATM) MANE Select	NP_000042.3:p.Thr2599ArgfsTer5
NR_147053.3:n.2373-1202_2373-1201del (C11orf65)