Canonical Allele Identifier: CA658683772

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 490720
• ClinVar RCV Id: RCV000581792
• dbSNP Id: rs1555126353

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333987_108333990delinsGAT , CM000673.2:g.108333987_108333990delinsGAT	GRCh38
NC_000011.9:g.108204714_108204717delinsGAT , CM000673.1:g.108204714_108204717delinsGAT	GRCh37
NC_000011.8:g.107709924_107709927delinsGAT	NCBI36
NG_009830.1:g.116156_116159delinsGAT , LRG_135:g.116156_116159delinsGAT
NG_054724.1:g.140843_140846delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8010+19_8010+22delinsGAT (ATM)	ENSP00000388058.2:n.8010+19_8010+22delinsGAT
ENST00000713593.1:c.*7481+19_*7481+22delinsGAT (ATM)	ENSP00000518889.1:n.*7481+19_*7481+22delinsGAT
ENST00000278616.9:c.8010+19_8010+22delinsGAT (ATM)	ENSP00000278616.4:n.8010+19_8010+22delinsGAT
ENST00000525056.2:n.2429+19_2429+22delinsGAT (ATM)
ENST00000638786.2:n.708+19_708+22delinsGAT (ATM)
ENST00000682286.1:n.2767+19_2767+22delinsGAT (ATM)
ENST00000682302.1:n.2428+19_2428+22delinsGAT (ATM)
ENST00000683174.1:n.9494+19_9494+22delinsGAT (ATM)
ENST00000683524.1:n.3234+19_3234+22delinsGAT (ATM)
ENST00000684152.1:n.3426+19_3426+22delinsGAT (ATM)
ENST00000684180.1:n.484+19_484+22delinsGAT (ATM)
ENST00000684447.1:n.4503+19_4503+22delinsGAT (ATM)
ENST00000527805.6:c.*3074+19_*3074+22delinsGAT (ATM)	ENSP00000435747.2:n.*3074+19_*3074+22delinsGAT
ENST00000675595.1:c.*3145+19_*3145+22delinsGAT (ATM)	ENSP00000502563.1:n.*3145+19_*3145+22delinsGAT
ENST00000675843.1:c.8010+19_8010+22delinsGAT (ATM) MANE Select	ENSP00000501606.1:n.8010+19_8010+22delinsGAT
ENST00000278616.8:c.8010+19_8010+22delinsGAT (ATM)	ENSP00000278616.4:n.8010+19_8010+22delinsGAT
ENST00000452508.6:c.8010+19_8010+22delinsGAT (ATM)	ENSP00000388058.2:n.8010+19_8010+22delinsGAT
ENST00000524755.5:c.299+1230_299+1233delinsATC (C11orf65)
ENST00000524792.5:n.4225+19_4225+22delinsGAT (ATM)
ENST00000525056.1:n.207+19_207+22delinsGAT (ATM)
ENST00000525729.5:c.641-24919_641-24916delinsATC (C11orf65)	ENSP00000433395.1:n.641-24919_641-24916delinsATC
ENST00000527531.5:c.*1269+1230_*1269+1233delinsATC (C11orf65)	ENSP00000431706.1:n.*1269+1230_*1269+1233delinsATC
ENST00000533979.5:n.222+19_222+22delinsGAT (ATM)
ENST00000615746.4:c.*1269+1230_*1269+1233delinsATC (C11orf65)	ENSP00000483537.1:n.*1269+1230_*1269+1233delinsATC
NM_000051.3:c.8010+19_8010+22delinsGAT , LRG_135t1:c.8010+19_8010+22delinsGAT (ATM)	NP_000042.3:n.8010+19_8010+22delinsGAT
XM_005271414.3:c.*38+1230_*38+1233delinsATC (C11orf65)	XP_005271471.1:n.*38+1230_*38+1233delinsATC
XM_005271415.3:c.804+1230_804+1233delinsATC (C11orf65)	XP_005271472.1:n.804+1230_804+1233delinsATC
XM_005271561.3:c.8010+19_8010+22delinsGAT (ATM)	XP_005271618.2:n.8010+19_8010+22delinsGAT
XM_005271562.3:c.8010+19_8010+22delinsGAT (ATM)	XP_005271619.2:n.8010+19_8010+22delinsGAT
XM_006718843.2:c.8010+19_8010+22delinsGAT (ATM)	XP_006718906.1:n.8010+19_8010+22delinsGAT
XM_006718845.1:c.3966+19_3966+22delinsGAT (ATM)	XP_006718908.1:n.3966+19_3966+22delinsGAT
XM_011542840.1:c.8010+19_8010+22delinsGAT (ATM)	XP_011541142.1:n.8010+19_8010+22delinsGAT
XM_011542841.1:c.8010+19_8010+22delinsGAT (ATM)	XP_011541143.1:n.8010+19_8010+22delinsGAT
XM_011542842.1:c.7845+19_7845+22delinsGAT (ATM)	XP_011541144.1:n.7845+19_7845+22delinsGAT
XM_011542843.1:c.8010+19_8010+22delinsGAT (ATM)	XP_011541145.1:n.8010+19_8010+22delinsGAT
XM_011542844.1:c.6966+19_6966+22delinsGAT (ATM)	XP_011541146.1:n.6966+19_6966+22delinsGAT
XM_011542845.1:c.6702+19_6702+22delinsGAT (ATM)	XP_011541147.1:n.6702+19_6702+22delinsGAT
XM_011542847.1:c.3081+19_3081+22delinsGAT (ATM)	XP_011541149.1:n.3081+19_3081+22delinsGAT
NM_001330368.1:c.641-24919_641-24916delinsATC (C11orf65)	NP_001317297.1:n.641-24919_641-24916delinsATC
NM_001351110.1:c.*38+1230_*38+1233delinsATC (C11orf65)	NP_001338039.1:n.*38+1230_*38+1233delinsATC
NM_001351834.1:c.8010+19_8010+22delinsGAT (ATM)	NP_001338763.1:n.8010+19_8010+22delinsGAT
NR_147053.2:n.2374+1230_2374+1233delinsATC (C11orf65)
XM_005271414.4:c.*38+1230_*38+1233delinsATC (C11orf65)	XP_005271471.1:n.*38+1230_*38+1233delinsATC
XM_005271415.4:c.804+1230_804+1233delinsATC (C11orf65)	XP_005271472.1:n.804+1230_804+1233delinsATC
XM_005271562.5:c.8010+19_8010+22delinsGAT (ATM)	XP_005271619.2:n.8010+19_8010+22delinsGAT
XM_006718843.4:c.8010+19_8010+22delinsGAT (ATM)	XP_006718906.1:n.8010+19_8010+22delinsGAT
XM_006718845.2:c.3966+19_3966+22delinsGAT (ATM)	XP_006718908.1:n.3966+19_3966+22delinsGAT
XM_011542840.3:c.8010+19_8010+22delinsGAT (ATM)	XP_011541142.1:n.8010+19_8010+22delinsGAT
XM_011542842.3:c.7845+19_7845+22delinsGAT (ATM)	XP_011541144.1:n.7845+19_7845+22delinsGAT
XM_011542843.2:c.8010+19_8010+22delinsGAT (ATM)	XP_011541145.1:n.8010+19_8010+22delinsGAT
XM_011542844.3:c.6966+19_6966+22delinsGAT (ATM)	XP_011541146.1:n.6966+19_6966+22delinsGAT
XM_011542845.2:c.6702+19_6702+22delinsGAT (ATM)	XP_011541147.1:n.6702+19_6702+22delinsGAT
XM_017017789.2:c.8010+19_8010+22delinsGAT (ATM)	XP_016873278.1:n.8010+19_8010+22delinsGAT
XM_017017790.2:c.8010+19_8010+22delinsGAT (ATM)	XP_016873279.1:n.8010+19_8010+22delinsGAT
NM_001330368.2:c.641-24919_641-24916delinsATC (C11orf65)	NP_001317297.1:n.641-24919_641-24916delinsATC
NM_001351110.2:c.*38+1230_*38+1233delinsATC (C11orf65)	NP_001338039.1:n.*38+1230_*38+1233delinsATC
NM_001351834.2:c.8010+19_8010+22delinsGAT (ATM)	NP_001338763.1:n.8010+19_8010+22delinsGAT
NM_000051.4:c.8010+19_8010+22delinsGAT (ATM) MANE Select	NP_000042.3:n.8010+19_8010+22delinsGAT
NR_147053.3:n.2372+1230_2372+1233delinsATC (C11orf65)