Canonical Allele Identifier: CA1998809207

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327397_108327401delinsCATAT , CM000673.2:g.108327397_108327401delinsCATAT	GRCh38
NC_000011.9:g.108198124_108198128delinsCATAT , CM000673.1:g.108198124_108198128delinsCATAT	GRCh37
NC_000011.8:g.107703334_107703338delinsCATAT	NCBI36
NG_009830.1:g.109566_109570delinsCATAT , LRG_135:g.109566_109570delinsCATAT
NG_054724.1:g.147432_147436delinsATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-248_6976-244delinsCATAT (ATM)	ENSP00000388058.2:n.6976-248_6976-244delinsCATAT
ENST00000713593.1:c.*6447-248_*6447-244delinsCATAT (ATM)	ENSP00000518889.1:n.*6447-248_*6447-244delinsCATAT
ENST00000278616.9:c.6976-248_6976-244delinsCATAT (ATM)	ENSP00000278616.4:n.6976-248_6976-244delinsCATAT
ENST00000525056.2:n.1395-248_1395-244delinsCATAT (ATM)
ENST00000682286.1:n.1733-248_1733-244delinsCATAT (ATM)
ENST00000682302.1:n.1394-248_1394-244delinsCATAT (ATM)
ENST00000683174.1:n.8460-248_8460-244delinsCATAT (ATM)
ENST00000683524.1:n.2200-248_2200-244delinsCATAT (ATM)
ENST00000684152.1:n.2690-248_2690-244delinsCATAT (ATM)
ENST00000684447.1:n.1191_1195delinsCATAT (ATM)
ENST00000527805.6:c.*2040-248_*2040-244delinsCATAT (ATM)	ENSP00000435747.2:n.*2040-248_*2040-244delinsCATAT
ENST00000675595.1:c.*2111-248_*2111-244delinsCATAT (ATM)	ENSP00000502563.1:n.*2111-248_*2111-244delinsCATAT
ENST00000675843.1:c.6976-248_6976-244delinsCATAT (ATM) MANE Select	ENSP00000501606.1:n.6976-248_6976-244delinsCATAT
ENST00000278616.8:c.6976-248_6976-244delinsCATAT (ATM)	ENSP00000278616.4:n.6976-248_6976-244delinsCATAT
ENST00000452508.6:c.6976-248_6976-244delinsCATAT (ATM)	ENSP00000388058.2:n.6976-248_6976-244delinsCATAT
ENST00000524792.5:n.3191-248_3191-244delinsCATAT (ATM)
ENST00000525537.2:n.4_8delinsCATAT (ATM)
ENST00000525729.5:c.641-18330_641-18326delinsATATG (C11orf65)	ENSP00000433395.1:n.641-18330_641-18326delinsATATG
ENST00000533690.5:n.2380-248_2380-244delinsCATAT (ATM)
NM_000051.3:c.6976-248_6976-244delinsCATAT , LRG_135t1:c.6976-248_6976-244delinsCATAT (ATM)	NP_000042.3:n.6976-248_6976-244delinsCATAT
XM_005271561.3:c.6976-248_6976-244delinsCATAT (ATM)	XP_005271618.2:n.6976-248_6976-244delinsCATAT
XM_005271562.3:c.6976-248_6976-244delinsCATAT (ATM)	XP_005271619.2:n.6976-248_6976-244delinsCATAT
XM_006718843.2:c.6976-248_6976-244delinsCATAT (ATM)	XP_006718906.1:n.6976-248_6976-244delinsCATAT
XM_006718845.1:c.2932-248_2932-244delinsCATAT (ATM)	XP_006718908.1:n.2932-248_2932-244delinsCATAT
XM_011542840.1:c.6976-248_6976-244delinsCATAT (ATM)	XP_011541142.1:n.6976-248_6976-244delinsCATAT
XM_011542841.1:c.6976-248_6976-244delinsCATAT (ATM)	XP_011541143.1:n.6976-248_6976-244delinsCATAT
XM_011542842.1:c.6811-248_6811-244delinsCATAT (ATM)	XP_011541144.1:n.6811-248_6811-244delinsCATAT
XM_011542843.1:c.6976-248_6976-244delinsCATAT (ATM)	XP_011541145.1:n.6976-248_6976-244delinsCATAT
XM_011542844.1:c.5932-248_5932-244delinsCATAT (ATM)	XP_011541146.1:n.5932-248_5932-244delinsCATAT
XM_011542845.1:c.5668-248_5668-244delinsCATAT (ATM)	XP_011541147.1:n.5668-248_5668-244delinsCATAT
XM_011542847.1:c.2047-248_2047-244delinsCATAT (ATM)	XP_011541149.1:n.2047-248_2047-244delinsCATAT
NM_001330368.1:c.641-18330_641-18326delinsATATG (C11orf65)	NP_001317297.1:n.641-18330_641-18326delinsATATG
NM_001351110.1:c.*38+7819_*38+7823delinsATATG (C11orf65)	NP_001338039.1:n.*38+7819_*38+7823delinsATATG
NM_001351834.1:c.6976-248_6976-244delinsCATAT (ATM)	NP_001338763.1:n.6976-248_6976-244delinsCATAT
XM_005271562.5:c.6976-248_6976-244delinsCATAT (ATM)	XP_005271619.2:n.6976-248_6976-244delinsCATAT
XM_006718843.4:c.6976-248_6976-244delinsCATAT (ATM)	XP_006718906.1:n.6976-248_6976-244delinsCATAT
XM_006718845.2:c.2932-248_2932-244delinsCATAT (ATM)	XP_006718908.1:n.2932-248_2932-244delinsCATAT
XM_011542840.3:c.6976-248_6976-244delinsCATAT (ATM)	XP_011541142.1:n.6976-248_6976-244delinsCATAT
XM_011542842.3:c.6811-248_6811-244delinsCATAT (ATM)	XP_011541144.1:n.6811-248_6811-244delinsCATAT
XM_011542843.2:c.6976-248_6976-244delinsCATAT (ATM)	XP_011541145.1:n.6976-248_6976-244delinsCATAT
XM_011542844.3:c.5932-248_5932-244delinsCATAT (ATM)	XP_011541146.1:n.5932-248_5932-244delinsCATAT
XM_011542845.2:c.5668-248_5668-244delinsCATAT (ATM)	XP_011541147.1:n.5668-248_5668-244delinsCATAT
XM_017017789.2:c.6976-248_6976-244delinsCATAT (ATM)	XP_016873278.1:n.6976-248_6976-244delinsCATAT
XM_017017790.2:c.6976-248_6976-244delinsCATAT (ATM)	XP_016873279.1:n.6976-248_6976-244delinsCATAT
NM_001330368.2:c.641-18330_641-18326delinsATATG (C11orf65)	NP_001317297.1:n.641-18330_641-18326delinsATATG
NM_001351110.2:c.*38+7819_*38+7823delinsATATG (C11orf65)	NP_001338039.1:n.*38+7819_*38+7823delinsATATG
NM_001351834.2:c.6976-248_6976-244delinsCATAT (ATM)	NP_001338763.1:n.6976-248_6976-244delinsCATAT
NM_000051.4:c.6976-248_6976-244delinsCATAT (ATM) MANE Select	NP_000042.3:n.6976-248_6976-244delinsCATAT