Canonical Allele Identifier: CA1998811060

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332764_108332765delinsTC , CM000673.2:g.108332764_108332765delinsTC	GRCh38
NC_000011.9:g.108203491_108203492delinsTC , CM000673.1:g.108203491_108203492delinsTC	GRCh37
NC_000011.8:g.107708701_107708702delinsTC	NCBI36
NG_009830.1:g.114933_114934delinsTC , LRG_135:g.114933_114934delinsTC
NG_054724.1:g.142068_142069delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7791_7792delinsTC (ATM)	ENSP00000388058.2:p.Asp2597=
ENST00000713593.1:c.*7262_*7263delinsTC (ATM)	ENSP00000518889.1:n.*7262_*7263delinsTC
ENST00000278616.9:c.7791_7792delinsTC (ATM)	ENSP00000278616.4:p.Asp2597=
ENST00000525056.2:n.2210_2211delinsTC (ATM)
ENST00000525537.3:n.1472_1473delinsTC (ATM)
ENST00000638786.2:n.625+727_625+728delinsTC (ATM)
ENST00000682286.1:n.2548_2549delinsTC (ATM)
ENST00000682302.1:n.2209_2210delinsTC (ATM)
ENST00000683174.1:n.9275_9276delinsTC (ATM)
ENST00000683524.1:n.3015_3016delinsTC (ATM)
ENST00000684152.1:n.3344-1122_3344-1121delinsTC (ATM)
ENST00000684180.1:n.265_266delinsTC (ATM)
ENST00000684447.1:n.3299_3300delinsTC (ATM)
ENST00000527805.6:c.*2855_*2856delinsTC (ATM)	ENSP00000435747.2:n.*2855_*2856delinsTC
ENST00000675595.1:c.*2926_*2927delinsTC (ATM)	ENSP00000502563.1:n.*2926_*2927delinsTC
ENST00000675843.1:c.7791_7792delinsTC (ATM) MANE Select	ENSP00000501606.1:p.Asp2597=
ENST00000278616.8:c.7791_7792delinsTC (ATM)	ENSP00000278616.4:p.Asp2597=
ENST00000452508.6:c.7791_7792delinsTC (ATM)	ENSP00000388058.2:p.Asp2597=
ENST00000524755.5:c.300-1198_300-1197delinsGA (C11orf65)
ENST00000524792.5:n.4006_4007delinsTC (ATM)
ENST00000525729.5:c.641-23694_641-23693delinsGA (C11orf65)	ENSP00000433395.1:n.641-23694_641-23693delinsGA
ENST00000527531.5:c.*1270-1198_*1270-1197delinsGA (C11orf65)	ENSP00000431706.1:n.*1270-1198_*1270-1197delinsGA
ENST00000533690.5:n.3195_3196delinsTC (ATM)
ENST00000533979.5:n.3_4delinsTC (ATM)
ENST00000615746.4:c.*1270-1198_*1270-1197delinsGA (C11orf65)	ENSP00000483537.1:n.*1270-1198_*1270-1197delinsGA
NM_000051.3:c.7791_7792delinsTC , LRG_135t1:c.7791_7792delinsTC (ATM)	NP_000042.3:p.Asp2597=
XM_005271414.3:c.*39-1198_*39-1197delinsGA (C11orf65)	XP_005271471.1:n.*39-1198_*39-1197delinsGA
XM_005271415.3:c.805-1198_805-1197delinsGA (C11orf65)	XP_005271472.1:n.805-1198_805-1197delinsGA
XM_005271561.3:c.7791_7792delinsTC (ATM)	XP_005271618.2:p.Asp2597=
XM_005271562.3:c.7791_7792delinsTC (ATM)	XP_005271619.2:p.Asp2597=
XM_006718843.2:c.7791_7792delinsTC (ATM)	XP_006718906.1:p.Asp2597=
XM_006718845.1:c.3747_3748delinsTC (ATM)	XP_006718908.1:p.Asp1249=
XM_011542840.1:c.7791_7792delinsTC (ATM)	XP_011541142.1:p.Asp2597=
XM_011542841.1:c.7791_7792delinsTC (ATM)	XP_011541143.1:p.Asp2597=
XM_011542842.1:c.7626_7627delinsTC (ATM)	XP_011541144.1:p.Asp2542=
XM_011542843.1:c.7791_7792delinsTC (ATM)	XP_011541145.1:p.Asp2597=
XM_011542844.1:c.6747_6748delinsTC (ATM)	XP_011541146.1:p.Asp2249=
XM_011542845.1:c.6483_6484delinsTC (ATM)	XP_011541147.1:p.Asp2161=
XM_011542847.1:c.2862_2863delinsTC (ATM)	XP_011541149.1:p.Asp954=
NM_001330368.1:c.641-23694_641-23693delinsGA (C11orf65)	NP_001317297.1:n.641-23694_641-23693delinsGA
NM_001351110.1:c.*38+2455_*38+2456delinsGA (C11orf65)	NP_001338039.1:n.*38+2455_*38+2456delinsGA
NM_001351834.1:c.7791_7792delinsTC (ATM)	NP_001338763.1:p.Asp2597=
NR_147053.2:n.2375-1198_2375-1197delinsGA (C11orf65)
XM_005271414.4:c.*39-1198_*39-1197delinsGA (C11orf65)	XP_005271471.1:n.*39-1198_*39-1197delinsGA
XM_005271415.4:c.805-1198_805-1197delinsGA (C11orf65)	XP_005271472.1:n.805-1198_805-1197delinsGA
XM_005271562.5:c.7791_7792delinsTC (ATM)	XP_005271619.2:p.Asp2597=
XM_006718843.4:c.7791_7792delinsTC (ATM)	XP_006718906.1:p.Asp2597=
XM_006718845.2:c.3747_3748delinsTC (ATM)	XP_006718908.1:p.Asp1249=
XM_011542840.3:c.7791_7792delinsTC (ATM)	XP_011541142.1:p.Asp2597=
XM_011542842.3:c.7626_7627delinsTC (ATM)	XP_011541144.1:p.Asp2542=
XM_011542843.2:c.7791_7792delinsTC (ATM)	XP_011541145.1:p.Asp2597=
XM_011542844.3:c.6747_6748delinsTC (ATM)	XP_011541146.1:p.Asp2249=
XM_011542845.2:c.6483_6484delinsTC (ATM)	XP_011541147.1:p.Asp2161=
XM_017017789.2:c.7791_7792delinsTC (ATM)	XP_016873278.1:p.Asp2597=
XM_017017790.2:c.7791_7792delinsTC (ATM)	XP_016873279.1:p.Asp2597=
NM_001330368.2:c.641-23694_641-23693delinsGA (C11orf65)	NP_001317297.1:n.641-23694_641-23693delinsGA
NM_001351110.2:c.*38+2455_*38+2456delinsGA (C11orf65)	NP_001338039.1:n.*38+2455_*38+2456delinsGA
NM_001351834.2:c.7791_7792delinsTC (ATM)	NP_001338763.1:p.Asp2597=
NM_000051.4:c.7791_7792delinsTC (ATM) MANE Select	NP_000042.3:p.Asp2597=
NR_147053.3:n.2373-1198_2373-1197delinsGA (C11orf65)