Canonical Allele Identifier: CA1998811066

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332765_108332768delinsCGAA , CM000673.2:g.108332765_108332768delinsCGAA	GRCh38
NC_000011.9:g.108203492_108203495delinsCGAA , CM000673.1:g.108203492_108203495delinsCGAA	GRCh37
NC_000011.8:g.107708702_107708705delinsCGAA	NCBI36
NG_009830.1:g.114934_114937delinsCGAA , LRG_135:g.114934_114937delinsCGAA
NG_054724.1:g.142065_142068delinsTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7792_7795delinsCGAA (ATM)	ENSP00000388058.2:p.Arg2598=
ENST00000713593.1:c.*7263_*7266delinsCGAA (ATM)	ENSP00000518889.1:n.*7263_*7266delinsCGAA
ENST00000278616.9:c.7792_7795delinsCGAA (ATM)	ENSP00000278616.4:p.Arg2598=
ENST00000525056.2:n.2211_2214delinsCGAA (ATM)
ENST00000525537.3:n.1473_1476delinsCGAA (ATM)
ENST00000638786.2:n.625+728_625+731delinsCGAA (ATM)
ENST00000682286.1:n.2549_2552delinsCGAA (ATM)
ENST00000682302.1:n.2210_2213delinsCGAA (ATM)
ENST00000683174.1:n.9276_9279delinsCGAA (ATM)
ENST00000683524.1:n.3016_3019delinsCGAA (ATM)
ENST00000684152.1:n.3344-1121_3344-1118delinsCGAA (ATM)
ENST00000684180.1:n.266_269delinsCGAA (ATM)
ENST00000684447.1:n.3300_3303delinsCGAA (ATM)
ENST00000527805.6:c.*2856_*2859delinsCGAA (ATM)	ENSP00000435747.2:n.*2856_*2859delinsCGAA
ENST00000675595.1:c.*2927_*2930delinsCGAA (ATM)	ENSP00000502563.1:n.*2927_*2930delinsCGAA
ENST00000675843.1:c.7792_7795delinsCGAA (ATM) MANE Select	ENSP00000501606.1:p.Arg2598=
ENST00000278616.8:c.7792_7795delinsCGAA (ATM)	ENSP00000278616.4:p.Arg2598=
ENST00000452508.6:c.7792_7795delinsCGAA (ATM)	ENSP00000388058.2:p.Arg2598=
ENST00000524755.5:c.300-1201_300-1198delinsTTCG (C11orf65)
ENST00000524792.5:n.4007_4010delinsCGAA (ATM)
ENST00000525729.5:c.641-23697_641-23694delinsTTCG (C11orf65)	ENSP00000433395.1:n.641-23697_641-23694delinsTTCG
ENST00000527531.5:c.*1270-1201_*1270-1198delinsTTCG (C11orf65)	ENSP00000431706.1:n.*1270-1201_*1270-1198delinsTTCG
ENST00000533690.5:n.3196_3199delinsCGAA (ATM)
ENST00000533979.5:n.4_7delinsCGAA (ATM)
ENST00000615746.4:c.*1270-1201_*1270-1198delinsTTCG (C11orf65)	ENSP00000483537.1:n.*1270-1201_*1270-1198delinsTTCG
NM_000051.3:c.7792_7795delinsCGAA , LRG_135t1:c.7792_7795delinsCGAA (ATM)	NP_000042.3:p.Arg2598=
XM_005271414.3:c.*39-1201_*39-1198delinsTTCG (C11orf65)	XP_005271471.1:n.*39-1201_*39-1198delinsTTCG
XM_005271415.3:c.805-1201_805-1198delinsTTCG (C11orf65)	XP_005271472.1:n.805-1201_805-1198delinsTTCG
XM_005271561.3:c.7792_7795delinsCGAA (ATM)	XP_005271618.2:p.Arg2598=
XM_005271562.3:c.7792_7795delinsCGAA (ATM)	XP_005271619.2:p.Arg2598=
XM_006718843.2:c.7792_7795delinsCGAA (ATM)	XP_006718906.1:p.Arg2598=
XM_006718845.1:c.3748_3751delinsCGAA (ATM)	XP_006718908.1:p.Arg1250=
XM_011542840.1:c.7792_7795delinsCGAA (ATM)	XP_011541142.1:p.Arg2598=
XM_011542841.1:c.7792_7795delinsCGAA (ATM)	XP_011541143.1:p.Arg2598=
XM_011542842.1:c.7627_7630delinsCGAA (ATM)	XP_011541144.1:p.Arg2543=
XM_011542843.1:c.7792_7795delinsCGAA (ATM)	XP_011541145.1:p.Arg2598=
XM_011542844.1:c.6748_6751delinsCGAA (ATM)	XP_011541146.1:p.Arg2250=
XM_011542845.1:c.6484_6487delinsCGAA (ATM)	XP_011541147.1:p.Arg2162=
XM_011542847.1:c.2863_2866delinsCGAA (ATM)	XP_011541149.1:p.Arg955=
NM_001330368.1:c.641-23697_641-23694delinsTTCG (C11orf65)	NP_001317297.1:n.641-23697_641-23694delinsTTCG
NM_001351110.1:c.*38+2452_*38+2455delinsTTCG (C11orf65)	NP_001338039.1:n.*38+2452_*38+2455delinsTTCG
NM_001351834.1:c.7792_7795delinsCGAA (ATM)	NP_001338763.1:p.Arg2598=
NR_147053.2:n.2375-1201_2375-1198delinsTTCG (C11orf65)
XM_005271414.4:c.*39-1201_*39-1198delinsTTCG (C11orf65)	XP_005271471.1:n.*39-1201_*39-1198delinsTTCG
XM_005271415.4:c.805-1201_805-1198delinsTTCG (C11orf65)	XP_005271472.1:n.805-1201_805-1198delinsTTCG
XM_005271562.5:c.7792_7795delinsCGAA (ATM)	XP_005271619.2:p.Arg2598=
XM_006718843.4:c.7792_7795delinsCGAA (ATM)	XP_006718906.1:p.Arg2598=
XM_006718845.2:c.3748_3751delinsCGAA (ATM)	XP_006718908.1:p.Arg1250=
XM_011542840.3:c.7792_7795delinsCGAA (ATM)	XP_011541142.1:p.Arg2598=
XM_011542842.3:c.7627_7630delinsCGAA (ATM)	XP_011541144.1:p.Arg2543=
XM_011542843.2:c.7792_7795delinsCGAA (ATM)	XP_011541145.1:p.Arg2598=
XM_011542844.3:c.6748_6751delinsCGAA (ATM)	XP_011541146.1:p.Arg2250=
XM_011542845.2:c.6484_6487delinsCGAA (ATM)	XP_011541147.1:p.Arg2162=
XM_017017789.2:c.7792_7795delinsCGAA (ATM)	XP_016873278.1:p.Arg2598=
XM_017017790.2:c.7792_7795delinsCGAA (ATM)	XP_016873279.1:p.Arg2598=
NM_001330368.2:c.641-23697_641-23694delinsTTCG (C11orf65)	NP_001317297.1:n.641-23697_641-23694delinsTTCG
NM_001351110.2:c.*38+2452_*38+2455delinsTTCG (C11orf65)	NP_001338039.1:n.*38+2452_*38+2455delinsTTCG
NM_001351834.2:c.7792_7795delinsCGAA (ATM)	NP_001338763.1:p.Arg2598=
NM_000051.4:c.7792_7795delinsCGAA (ATM) MANE Select	NP_000042.3:p.Arg2598=
NR_147053.3:n.2373-1201_2373-1198delinsTTCG (C11orf65)