Canonical Allele Identifier: CA2825001944

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148451
• ClinVar RCV Id: RCV004440357

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327745_108327754del , CM000673.2:g.108327745_108327754del	GRCh38
NC_000011.9:g.108198472_108198481del , CM000673.1:g.108198472_108198481del	GRCh37
NC_000011.8:g.107703682_107703691del	NCBI36
NG_009830.1:g.109914_109923del , LRG_135:g.109914_109923del
NG_054724.1:g.147082_147091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7076_7085del (ATM)	ENSP00000388058.2:p.Thr2359LysfsTer4
ENST00000713593.1:c.*6547_*6556del (ATM)	ENSP00000518889.1:n.*6547_*6556del
ENST00000278616.9:c.7076_7085del (ATM)	ENSP00000278616.4:p.Thr2359LysfsTer4
ENST00000525056.2:n.1495_1504del (ATM)
ENST00000525537.3:n.33_42del (ATM)
ENST00000682286.1:n.1833_1842del (ATM)
ENST00000682302.1:n.1494_1503del (ATM)
ENST00000683174.1:n.8560_8569del (ATM)
ENST00000683524.1:n.2300_2309del (ATM)
ENST00000684152.1:n.2790_2799del (ATM)
ENST00000684447.1:n.1539_1548del (ATM)
ENST00000527805.6:c.*2140_*2149del (ATM)	ENSP00000435747.2:n.*2140_*2149del
ENST00000675595.1:c.*2211_*2220del (ATM)	ENSP00000502563.1:n.*2211_*2220del
ENST00000675843.1:c.7076_7085del (ATM) MANE Select	ENSP00000501606.1:p.Thr2359LysfsTer4
ENST00000278616.8:c.7076_7085del (ATM)	ENSP00000278616.4:p.Thr2359LysfsTer4
ENST00000452508.6:c.7076_7085del (ATM)	ENSP00000388058.2:p.Thr2359LysfsTer4
ENST00000524792.5:n.3291_3300del (ATM)
ENST00000525537.2:n.352_361del (ATM)
ENST00000525729.5:c.641-18680_641-18671del (C11orf65)	ENSP00000433395.1:n.641-18680_641-18671del
ENST00000527389.2:n.101_110del (ATM)
ENST00000533690.5:n.2480_2489del (ATM)
NM_000051.3:c.7076_7085del , LRG_135t1:c.7076_7085del (ATM)	NP_000042.3:p.Thr2359LysfsTer4
XM_005271561.3:c.7076_7085del (ATM)	XP_005271618.2:p.Thr2359LysfsTer4
XM_005271562.3:c.7076_7085del (ATM)	XP_005271619.2:p.Thr2359LysfsTer4
XM_006718843.2:c.7076_7085del (ATM)	XP_006718906.1:p.Thr2359LysfsTer4
XM_006718845.1:c.3032_3041del (ATM)	XP_006718908.1:p.Thr1011LysfsTer4
XM_011542840.1:c.7076_7085del (ATM)	XP_011541142.1:p.Thr2359LysfsTer4
XM_011542841.1:c.7076_7085del (ATM)	XP_011541143.1:p.Thr2359LysfsTer4
XM_011542842.1:c.6911_6920del (ATM)	XP_011541144.1:p.Thr2304LysfsTer4
XM_011542843.1:c.7076_7085del (ATM)	XP_011541145.1:p.Thr2359LysfsTer4
XM_011542844.1:c.6032_6041del (ATM)	XP_011541146.1:p.Thr2011LysfsTer4
XM_011542845.1:c.5768_5777del (ATM)	XP_011541147.1:p.Thr1923LysfsTer4
XM_011542847.1:c.2147_2156del (ATM)	XP_011541149.1:p.Thr716LysfsTer4
NM_001330368.1:c.641-18680_641-18671del (C11orf65)	NP_001317297.1:n.641-18680_641-18671del
NM_001351110.1:c.*38+7469_*38+7478del (C11orf65)	NP_001338039.1:n.*38+7469_*38+7478del
NM_001351834.1:c.7076_7085del (ATM)	NP_001338763.1:p.Thr2359LysfsTer4
XM_005271562.5:c.7076_7085del (ATM)	XP_005271619.2:p.Thr2359LysfsTer4
XM_006718843.4:c.7076_7085del (ATM)	XP_006718906.1:p.Thr2359LysfsTer4
XM_006718845.2:c.3032_3041del (ATM)	XP_006718908.1:p.Thr1011LysfsTer4
XM_011542840.3:c.7076_7085del (ATM)	XP_011541142.1:p.Thr2359LysfsTer4
XM_011542842.3:c.6911_6920del (ATM)	XP_011541144.1:p.Thr2304LysfsTer4
XM_011542843.2:c.7076_7085del (ATM)	XP_011541145.1:p.Thr2359LysfsTer4
XM_011542844.3:c.6032_6041del (ATM)	XP_011541146.1:p.Thr2011LysfsTer4
XM_011542845.2:c.5768_5777del (ATM)	XP_011541147.1:p.Thr1923LysfsTer4
XM_017017789.2:c.7076_7085del (ATM)	XP_016873278.1:p.Thr2359LysfsTer4
XM_017017790.2:c.7076_7085del (ATM)	XP_016873279.1:p.Thr2359LysfsTer4
NM_001330368.2:c.641-18680_641-18671del (C11orf65)	NP_001317297.1:n.641-18680_641-18671del
NM_001351110.2:c.*38+7469_*38+7478del (C11orf65)	NP_001338039.1:n.*38+7469_*38+7478del
NM_001351834.2:c.7076_7085del (ATM)	NP_001338763.1:p.Thr2359LysfsTer4
NM_000051.4:c.7076_7085del (ATM) MANE Select	NP_000042.3:p.Thr2359LysfsTer4