Canonical Allele Identifier: CA942022366

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2086404074
• gnomAD v3: 11-108332765-CGAA-C
• gnomAD v4: 11-108332765-CGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332766_108332768del , CM000673.2:g.108332766_108332768del	GRCh38
NC_000011.9:g.108203493_108203495del , CM000673.1:g.108203493_108203495del	GRCh37
NC_000011.8:g.107708703_107708705del	NCBI36
NG_009830.1:g.114935_114937del , LRG_135:g.114935_114937del
NG_054724.1:g.142065_142067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7793_7795del (ATM)	ENSP00000388058.2:p.Arg2598_Thr2599delinsPro
ENST00000713593.1:c.*7264_*7266del (ATM)	ENSP00000518889.1:n.*7264_*7266del
ENST00000278616.9:c.7793_7795del (ATM)	ENSP00000278616.4:p.Arg2598_Thr2599delinsPro
ENST00000525056.2:n.2212_2214del (ATM)
ENST00000525537.3:n.1474_1476del (ATM)
ENST00000638786.2:n.625+729_625+731del (ATM)
ENST00000682286.1:n.2550_2552del (ATM)
ENST00000682302.1:n.2211_2213del (ATM)
ENST00000683174.1:n.9277_9279del (ATM)
ENST00000683524.1:n.3017_3019del (ATM)
ENST00000684152.1:n.3344-1120_3344-1118del (ATM)
ENST00000684180.1:n.267_269del (ATM)
ENST00000684447.1:n.3301_3303del (ATM)
ENST00000527805.6:c.*2857_*2859del (ATM)	ENSP00000435747.2:n.*2857_*2859del
ENST00000675595.1:c.*2928_*2930del (ATM)	ENSP00000502563.1:n.*2928_*2930del
ENST00000675843.1:c.7793_7795del (ATM) MANE Select	ENSP00000501606.1:p.Arg2598_Thr2599delinsPro
ENST00000278616.8:c.7793_7795del (ATM)	ENSP00000278616.4:p.Arg2598_Thr2599delinsPro
ENST00000452508.6:c.7793_7795del (ATM)	ENSP00000388058.2:p.Arg2598_Thr2599delinsPro
ENST00000524755.5:c.300-1201_300-1199del (C11orf65)
ENST00000524792.5:n.4008_4010del (ATM)
ENST00000525729.5:c.641-23697_641-23695del (C11orf65)	ENSP00000433395.1:n.641-23697_641-23695del
ENST00000527531.5:c.*1270-1201_*1270-1199del (C11orf65)	ENSP00000431706.1:n.*1270-1201_*1270-1199del
ENST00000533690.5:n.3197_3199del (ATM)
ENST00000533979.5:n.5_7del (ATM)
ENST00000615746.4:c.*1270-1201_*1270-1199del (C11orf65)	ENSP00000483537.1:n.*1270-1201_*1270-1199del
NM_000051.3:c.7793_7795del , LRG_135t1:c.7793_7795del (ATM)	NP_000042.3:p.Arg2598_Thr2599delinsPro
XM_005271414.3:c.*39-1201_*39-1199del (C11orf65)	XP_005271471.1:n.*39-1201_*39-1199del
XM_005271415.3:c.805-1201_805-1199del (C11orf65)	XP_005271472.1:n.805-1201_805-1199del
XM_005271561.3:c.7793_7795del (ATM)	XP_005271618.2:p.Arg2598_Thr2599delinsPro
XM_005271562.3:c.7793_7795del (ATM)	XP_005271619.2:p.Arg2598_Thr2599delinsPro
XM_006718843.2:c.7793_7795del (ATM)	XP_006718906.1:p.Arg2598_Thr2599delinsPro
XM_006718845.1:c.3749_3751del (ATM)	XP_006718908.1:p.Arg1250_Thr1251delinsPro
XM_011542840.1:c.7793_7795del (ATM)	XP_011541142.1:p.Arg2598_Thr2599delinsPro
XM_011542841.1:c.7793_7795del (ATM)	XP_011541143.1:p.Arg2598_Thr2599delinsPro
XM_011542842.1:c.7628_7630del (ATM)	XP_011541144.1:p.Arg2543_Thr2544delinsPro
XM_011542843.1:c.7793_7795del (ATM)	XP_011541145.1:p.Arg2598_Thr2599delinsPro
XM_011542844.1:c.6749_6751del (ATM)	XP_011541146.1:p.Arg2250_Thr2251delinsPro
XM_011542845.1:c.6485_6487del (ATM)	XP_011541147.1:p.Arg2162_Thr2163delinsPro
XM_011542847.1:c.2864_2866del (ATM)	XP_011541149.1:p.Arg955_Thr956delinsPro
NM_001330368.1:c.641-23697_641-23695del (C11orf65)	NP_001317297.1:n.641-23697_641-23695del
NM_001351110.1:c.*38+2452_*38+2454del (C11orf65)	NP_001338039.1:n.*38+2452_*38+2454del
NM_001351834.1:c.7793_7795del (ATM)	NP_001338763.1:p.Arg2598_Thr2599delinsPro
NR_147053.2:n.2375-1201_2375-1199del (C11orf65)
XM_005271414.4:c.*39-1201_*39-1199del (C11orf65)	XP_005271471.1:n.*39-1201_*39-1199del
XM_005271415.4:c.805-1201_805-1199del (C11orf65)	XP_005271472.1:n.805-1201_805-1199del
XM_005271562.5:c.7793_7795del (ATM)	XP_005271619.2:p.Arg2598_Thr2599delinsPro
XM_006718843.4:c.7793_7795del (ATM)	XP_006718906.1:p.Arg2598_Thr2599delinsPro
XM_006718845.2:c.3749_3751del (ATM)	XP_006718908.1:p.Arg1250_Thr1251delinsPro
XM_011542840.3:c.7793_7795del (ATM)	XP_011541142.1:p.Arg2598_Thr2599delinsPro
XM_011542842.3:c.7628_7630del (ATM)	XP_011541144.1:p.Arg2543_Thr2544delinsPro
XM_011542843.2:c.7793_7795del (ATM)	XP_011541145.1:p.Arg2598_Thr2599delinsPro
XM_011542844.3:c.6749_6751del (ATM)	XP_011541146.1:p.Arg2250_Thr2251delinsPro
XM_011542845.2:c.6485_6487del (ATM)	XP_011541147.1:p.Arg2162_Thr2163delinsPro
XM_017017789.2:c.7793_7795del (ATM)	XP_016873278.1:p.Arg2598_Thr2599delinsPro
XM_017017790.2:c.7793_7795del (ATM)	XP_016873279.1:p.Arg2598_Thr2599delinsPro
NM_001330368.2:c.641-23697_641-23695del (C11orf65)	NP_001317297.1:n.641-23697_641-23695del
NM_001351110.2:c.*38+2452_*38+2454del (C11orf65)	NP_001338039.1:n.*38+2452_*38+2454del
NM_001351834.2:c.7793_7795del (ATM)	NP_001338763.1:p.Arg2598_Thr2599delinsPro
NM_000051.4:c.7793_7795del (ATM) MANE Select	NP_000042.3:p.Arg2598_Thr2599delinsPro
NR_147053.3:n.2373-1201_2373-1199del (C11orf65)