Canonical Allele Identifier: CA913188406

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 923363
• ClinVar RCV Id: RCV001183962
• dbSNP Id: rs2085091650

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108320071_108320075delinsAAT , CM000673.2:g.108320071_108320075delinsAAT	GRCh38
NC_000011.9:g.108190798_108190802delinsAAT , CM000673.1:g.108190798_108190802delinsAAT	GRCh37
NC_000011.8:g.107696008_107696012delinsAAT	NCBI36
NG_009830.1:g.102240_102244delinsAAT , LRG_135:g.102240_102244delinsAAT
NG_054724.1:g.154758_154762delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6452+13_6452+17delinsAAT (ATM)	ENSP00000388058.2:n.6452+13_6452+17delinsAAT
ENST00000713593.1:c.*5923+13_*5923+17delinsAAT (ATM)	ENSP00000518889.1:n.*5923+13_*5923+17delinsAAT
ENST00000278616.9:c.6452+13_6452+17delinsAAT (ATM)	ENSP00000278616.4:n.6452+13_6452+17delinsAAT
ENST00000525056.2:n.871+13_871+17delinsAAT (ATM)
ENST00000682286.1:n.1209+13_1209+17delinsAAT (ATM)
ENST00000682302.1:n.870+13_870+17delinsAAT (ATM)
ENST00000683174.1:n.7936+13_7936+17delinsAAT (ATM)
ENST00000683524.1:n.1676+13_1676+17delinsAAT (ATM)
ENST00000684152.1:n.2166+13_2166+17delinsAAT (ATM)
ENST00000527805.6:c.*1516+13_*1516+17delinsAAT (ATM)	ENSP00000435747.2:n.*1516+13_*1516+17delinsAAT
ENST00000675595.1:c.*1516+13_*1516+17delinsAAT (ATM)	ENSP00000502563.1:n.*1516+13_*1516+17delinsAAT
ENST00000675843.1:c.6452+13_6452+17delinsAAT (ATM) MANE Select	ENSP00000501606.1:n.6452+13_6452+17delinsAAT
ENST00000278616.8:c.6452+13_6452+17delinsAAT (ATM)	ENSP00000278616.4:n.6452+13_6452+17delinsAAT
ENST00000452508.6:c.6452+13_6452+17delinsAAT (ATM)	ENSP00000388058.2:n.6452+13_6452+17delinsAAT
ENST00000524792.5:n.2667+13_2667+17delinsAAT (ATM)
ENST00000525729.5:c.641-11004_641-11000delinsATT (C11orf65)	ENSP00000433395.1:n.641-11004_641-11000delinsATT
ENST00000533690.5:n.1856+13_1856+17delinsAAT (ATM)
NM_000051.3:c.6452+13_6452+17delinsAAT , LRG_135t1:c.6452+13_6452+17delinsAAT (ATM)	NP_000042.3:n.6452+13_6452+17delinsAAT
XM_005271561.3:c.6452+13_6452+17delinsAAT (ATM)	XP_005271618.2:n.6452+13_6452+17delinsAAT
XM_005271562.3:c.6452+13_6452+17delinsAAT (ATM)	XP_005271619.2:n.6452+13_6452+17delinsAAT
XM_006718843.2:c.6452+13_6452+17delinsAAT (ATM)	XP_006718906.1:n.6452+13_6452+17delinsAAT
XM_006718845.1:c.2408+13_2408+17delinsAAT (ATM)	XP_006718908.1:n.2408+13_2408+17delinsAAT
XM_011542840.1:c.6452+13_6452+17delinsAAT (ATM)	XP_011541142.1:n.6452+13_6452+17delinsAAT
XM_011542841.1:c.6452+13_6452+17delinsAAT (ATM)	XP_011541143.1:n.6452+13_6452+17delinsAAT
XM_011542842.1:c.6287+13_6287+17delinsAAT (ATM)	XP_011541144.1:n.6287+13_6287+17delinsAAT
XM_011542843.1:c.6452+13_6452+17delinsAAT (ATM)	XP_011541145.1:n.6452+13_6452+17delinsAAT
XM_011542844.1:c.5408+13_5408+17delinsAAT (ATM)	XP_011541146.1:n.5408+13_5408+17delinsAAT
XM_011542845.1:c.5144+13_5144+17delinsAAT (ATM)	XP_011541147.1:n.5144+13_5144+17delinsAAT
XM_011542847.1:c.1523+13_1523+17delinsAAT (ATM)	XP_011541149.1:n.1523+13_1523+17delinsAAT
NM_001330368.1:c.641-11004_641-11000delinsATT (C11orf65)	NP_001317297.1:n.641-11004_641-11000delinsATT
NM_001351110.1:c.*39-11004_*39-11000delinsATT (C11orf65)	NP_001338039.1:n.*39-11004_*39-11000delinsATT
NM_001351834.1:c.6452+13_6452+17delinsAAT (ATM)	NP_001338763.1:n.6452+13_6452+17delinsAAT
XM_005271562.5:c.6452+13_6452+17delinsAAT (ATM)	XP_005271619.2:n.6452+13_6452+17delinsAAT
XM_006718843.4:c.6452+13_6452+17delinsAAT (ATM)	XP_006718906.1:n.6452+13_6452+17delinsAAT
XM_006718845.2:c.2408+13_2408+17delinsAAT (ATM)	XP_006718908.1:n.2408+13_2408+17delinsAAT
XM_011542840.3:c.6452+13_6452+17delinsAAT (ATM)	XP_011541142.1:n.6452+13_6452+17delinsAAT
XM_011542842.3:c.6287+13_6287+17delinsAAT (ATM)	XP_011541144.1:n.6287+13_6287+17delinsAAT
XM_011542843.2:c.6452+13_6452+17delinsAAT (ATM)	XP_011541145.1:n.6452+13_6452+17delinsAAT
XM_011542844.3:c.5408+13_5408+17delinsAAT (ATM)	XP_011541146.1:n.5408+13_5408+17delinsAAT
XM_011542845.2:c.5144+13_5144+17delinsAAT (ATM)	XP_011541147.1:n.5144+13_5144+17delinsAAT
XM_017017789.2:c.6452+13_6452+17delinsAAT (ATM)	XP_016873278.1:n.6452+13_6452+17delinsAAT
XM_017017790.2:c.6452+13_6452+17delinsAAT (ATM)	XP_016873279.1:n.6452+13_6452+17delinsAAT
XM_017017791.1:c.6452+13_6452+17delinsAAT (ATM)	XP_016873280.1:n.6452+13_6452+17delinsAAT
NM_001330368.2:c.641-11004_641-11000delinsATT (C11orf65)	NP_001317297.1:n.641-11004_641-11000delinsATT
NM_001351110.2:c.*39-11004_*39-11000delinsATT (C11orf65)	NP_001338039.1:n.*39-11004_*39-11000delinsATT
NM_001351834.2:c.6452+13_6452+17delinsAAT (ATM)	NP_001338763.1:n.6452+13_6452+17delinsAAT
NM_000051.4:c.6452+13_6452+17delinsAAT (ATM) MANE Select	NP_000042.3:n.6452+13_6452+17delinsAAT