Canonical Allele Identifier: CA1998807785

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325403_108325404delinsTA , CM000673.2:g.108325403_108325404delinsTA	GRCh38
NC_000011.9:g.108196130_108196131delinsTA , CM000673.1:g.108196130_108196131delinsTA	GRCh37
NC_000011.8:g.107701340_107701341delinsTA	NCBI36
NG_009830.1:g.107572_107573delinsTA , LRG_135:g.107572_107573delinsTA
NG_054724.1:g.149429_149430delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6666_6667delinsTA (ATM)	ENSP00000388058.2:p.Pro2222=
ENST00000713593.1:c.*6137_*6138delinsTA (ATM)	ENSP00000518889.1:n.*6137_*6138delinsTA
ENST00000278616.9:c.6666_6667delinsTA (ATM)	ENSP00000278616.4:p.Pro2222=
ENST00000525056.2:n.1085_1086delinsTA (ATM)
ENST00000682286.1:n.1423_1424delinsTA (ATM)
ENST00000682302.1:n.1084_1085delinsTA (ATM)
ENST00000683174.1:n.8150_8151delinsTA (ATM)
ENST00000683524.1:n.1890_1891delinsTA (ATM)
ENST00000684152.1:n.2380_2381delinsTA (ATM)
ENST00000527805.6:c.*1730_*1731delinsTA (ATM)	ENSP00000435747.2:n.*1730_*1731delinsTA
ENST00000675595.1:c.*1801_*1802delinsTA (ATM)	ENSP00000502563.1:n.*1801_*1802delinsTA
ENST00000675843.1:c.6666_6667delinsTA (ATM) MANE Select	ENSP00000501606.1:p.Pro2222=
ENST00000278616.8:c.6666_6667delinsTA (ATM)	ENSP00000278616.4:p.Pro2222=
ENST00000452508.6:c.6666_6667delinsTA (ATM)	ENSP00000388058.2:p.Pro2222=
ENST00000524792.5:n.2881_2882delinsTA (ATM)
ENST00000525729.5:c.641-16333_641-16332delinsTA (C11orf65)	ENSP00000433395.1:n.641-16333_641-16332delinsTA
ENST00000533690.5:n.2070_2071delinsTA (ATM)
NM_000051.3:c.6666_6667delinsTA , LRG_135t1:c.6666_6667delinsTA (ATM)	NP_000042.3:p.Pro2222=
XM_005271561.3:c.6666_6667delinsTA (ATM)	XP_005271618.2:p.Pro2222=
XM_005271562.3:c.6666_6667delinsTA (ATM)	XP_005271619.2:p.Pro2222=
XM_006718843.2:c.6666_6667delinsTA (ATM)	XP_006718906.1:p.Pro2222=
XM_006718845.1:c.2622_2623delinsTA (ATM)	XP_006718908.1:p.Pro874=
XM_011542840.1:c.6666_6667delinsTA (ATM)	XP_011541142.1:p.Pro2222=
XM_011542841.1:c.6666_6667delinsTA (ATM)	XP_011541143.1:p.Pro2222=
XM_011542842.1:c.6501_6502delinsTA (ATM)	XP_011541144.1:p.Pro2167=
XM_011542843.1:c.6666_6667delinsTA (ATM)	XP_011541145.1:p.Pro2222=
XM_011542844.1:c.5622_5623delinsTA (ATM)	XP_011541146.1:p.Pro1874=
XM_011542845.1:c.5358_5359delinsTA (ATM)	XP_011541147.1:p.Pro1786=
XM_011542847.1:c.1737_1738delinsTA (ATM)	XP_011541149.1:p.Pro579=
NM_001330368.1:c.641-16333_641-16332delinsTA (C11orf65)	NP_001317297.1:n.641-16333_641-16332delinsTA
NM_001351110.1:c.*38+9816_*38+9817delinsTA (C11orf65)	NP_001338039.1:n.*38+9816_*38+9817delinsTA
NM_001351834.1:c.6666_6667delinsTA (ATM)	NP_001338763.1:p.Pro2222=
XM_005271562.5:c.6666_6667delinsTA (ATM)	XP_005271619.2:p.Pro2222=
XM_006718843.4:c.6666_6667delinsTA (ATM)	XP_006718906.1:p.Pro2222=
XM_006718845.2:c.2622_2623delinsTA (ATM)	XP_006718908.1:p.Pro874=
XM_011542840.3:c.6666_6667delinsTA (ATM)	XP_011541142.1:p.Pro2222=
XM_011542842.3:c.6501_6502delinsTA (ATM)	XP_011541144.1:p.Pro2167=
XM_011542843.2:c.6666_6667delinsTA (ATM)	XP_011541145.1:p.Pro2222=
XM_011542844.3:c.5622_5623delinsTA (ATM)	XP_011541146.1:p.Pro1874=
XM_011542845.2:c.5358_5359delinsTA (ATM)	XP_011541147.1:p.Pro1786=
XM_017017789.2:c.6666_6667delinsTA (ATM)	XP_016873278.1:p.Pro2222=
XM_017017790.2:c.6666_6667delinsTA (ATM)	XP_016873279.1:p.Pro2222=
NM_001330368.2:c.641-16333_641-16332delinsTA (C11orf65)	NP_001317297.1:n.641-16333_641-16332delinsTA
NM_001351110.2:c.*38+9816_*38+9817delinsTA (C11orf65)	NP_001338039.1:n.*38+9816_*38+9817delinsTA
NM_001351834.2:c.6666_6667delinsTA (ATM)	NP_001338763.1:p.Pro2222=
NM_000051.4:c.6666_6667delinsTA (ATM) MANE Select	NP_000042.3:p.Pro2222=