Canonical Allele Identifier: CA2580083174

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1756688
• ClinVar RCV Id: RCV002364835 ; RCV004055139

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327680_108327681delinsAA , CM000673.2:g.108327680_108327681delinsAA	GRCh38
NC_000011.9:g.108198407_108198408delinsAA , CM000673.1:g.108198407_108198408delinsAA	GRCh37
NC_000011.8:g.107703617_107703618delinsAA	NCBI36
NG_009830.1:g.109849_109850delinsAA , LRG_135:g.109849_109850delinsAA
NG_054724.1:g.147152_147153delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7011_7012delinsAA (ATM)	ENSP00000388058.2:p.Cys2337Ter
ENST00000713593.1:c.*6482_*6483delinsAA (ATM)	ENSP00000518889.1:n.*6482_*6483delinsAA
ENST00000278616.9:c.7011_7012delinsAA (ATM)	ENSP00000278616.4:p.Cys2337Ter
ENST00000525056.2:n.1430_1431delinsAA (ATM)
ENST00000682286.1:n.1768_1769delinsAA (ATM)
ENST00000682302.1:n.1429_1430delinsAA (ATM)
ENST00000683174.1:n.8495_8496delinsAA (ATM)
ENST00000683524.1:n.2235_2236delinsAA (ATM)
ENST00000684152.1:n.2725_2726delinsAA (ATM)
ENST00000684447.1:n.1474_1475delinsAA (ATM)
ENST00000527805.6:c.*2075_*2076delinsAA (ATM)	ENSP00000435747.2:n.*2075_*2076delinsAA
ENST00000675595.1:c.*2146_*2147delinsAA (ATM)	ENSP00000502563.1:n.*2146_*2147delinsAA
ENST00000675843.1:c.7011_7012delinsAA (ATM) MANE Select	ENSP00000501606.1:p.Cys2337Ter
ENST00000278616.8:c.7011_7012delinsAA (ATM)	ENSP00000278616.4:p.Cys2337Ter
ENST00000452508.6:c.7011_7012delinsAA (ATM)	ENSP00000388058.2:p.Cys2337Ter
ENST00000524792.5:n.3226_3227delinsAA (ATM)
ENST00000525537.2:n.287_288delinsAA (ATM)
ENST00000525729.5:c.641-18610_641-18609delinsTT (C11orf65)	ENSP00000433395.1:n.641-18610_641-18609delinsTT
ENST00000527389.2:n.36_37delinsAA (ATM)
ENST00000533690.5:n.2415_2416delinsAA (ATM)
NM_000051.3:c.7011_7012delinsAA , LRG_135t1:c.7011_7012delinsAA (ATM)	NP_000042.3:p.Cys2337Ter
XM_005271561.3:c.7011_7012delinsAA (ATM)	XP_005271618.2:p.Cys2337Ter
XM_005271562.3:c.7011_7012delinsAA (ATM)	XP_005271619.2:p.Cys2337Ter
XM_006718843.2:c.7011_7012delinsAA (ATM)	XP_006718906.1:p.Cys2337Ter
XM_006718845.1:c.2967_2968delinsAA (ATM)	XP_006718908.1:p.Cys989Ter
XM_011542840.1:c.7011_7012delinsAA (ATM)	XP_011541142.1:p.Cys2337Ter
XM_011542841.1:c.7011_7012delinsAA (ATM)	XP_011541143.1:p.Cys2337Ter
XM_011542842.1:c.6846_6847delinsAA (ATM)	XP_011541144.1:p.Cys2282Ter
XM_011542843.1:c.7011_7012delinsAA (ATM)	XP_011541145.1:p.Cys2337Ter
XM_011542844.1:c.5967_5968delinsAA (ATM)	XP_011541146.1:p.Cys1989Ter
XM_011542845.1:c.5703_5704delinsAA (ATM)	XP_011541147.1:p.Cys1901Ter
XM_011542847.1:c.2082_2083delinsAA (ATM)	XP_011541149.1:p.Cys694Ter
NM_001330368.1:c.641-18610_641-18609delinsTT (C11orf65)	NP_001317297.1:n.641-18610_641-18609delinsTT
NM_001351110.1:c.*38+7539_*38+7540delinsTT (C11orf65)	NP_001338039.1:n.*38+7539_*38+7540delinsTT
NM_001351834.1:c.7011_7012delinsAA (ATM)	NP_001338763.1:p.Cys2337Ter
XM_005271562.5:c.7011_7012delinsAA (ATM)	XP_005271619.2:p.Cys2337Ter
XM_006718843.4:c.7011_7012delinsAA (ATM)	XP_006718906.1:p.Cys2337Ter
XM_006718845.2:c.2967_2968delinsAA (ATM)	XP_006718908.1:p.Cys989Ter
XM_011542840.3:c.7011_7012delinsAA (ATM)	XP_011541142.1:p.Cys2337Ter
XM_011542842.3:c.6846_6847delinsAA (ATM)	XP_011541144.1:p.Cys2282Ter
XM_011542843.2:c.7011_7012delinsAA (ATM)	XP_011541145.1:p.Cys2337Ter
XM_011542844.3:c.5967_5968delinsAA (ATM)	XP_011541146.1:p.Cys1989Ter
XM_011542845.2:c.5703_5704delinsAA (ATM)	XP_011541147.1:p.Cys1901Ter
XM_017017789.2:c.7011_7012delinsAA (ATM)	XP_016873278.1:p.Cys2337Ter
XM_017017790.2:c.7011_7012delinsAA (ATM)	XP_016873279.1:p.Cys2337Ter
NM_001330368.2:c.641-18610_641-18609delinsTT (C11orf65)	NP_001317297.1:n.641-18610_641-18609delinsTT
NM_001351110.2:c.*38+7539_*38+7540delinsTT (C11orf65)	NP_001338039.1:n.*38+7539_*38+7540delinsTT
NM_001351834.2:c.7011_7012delinsAA (ATM)	NP_001338763.1:p.Cys2337Ter
NM_000051.4:c.7011_7012delinsAA (ATM) MANE Select	NP_000042.3:p.Cys2337Ter