Canonical Allele Identifier: CA2573146658

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1428486
• ClinVar RCV Id: RCV001936335
• dbSNP Id: rs2136661064

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335060_108335061insTA , CM000673.2:g.108335060_108335061insTA	GRCh38
NC_000011.9:g.108205787_108205788insTA , CM000673.1:g.108205787_108205788insTA	GRCh37
NC_000011.8:g.107710997_107710998insTA	NCBI36
NG_009830.1:g.117229_117230insTA , LRG_135:g.117229_117230insTA
NG_054724.1:g.139772_139773insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8102_8103insTA (ATM)	ENSP00000388058.2:p.Ile2702LysfsTer2
ENST00000713593.1:c.*7573_*7574insTA (ATM)	ENSP00000518889.1:n.*7573_*7574insTA
ENST00000278616.9:c.8102_8103insTA (ATM)	ENSP00000278616.4:p.Ile2702LysfsTer2
ENST00000525056.2:n.2521_2522insTA (ATM)
ENST00000638786.2:n.800_801insTA (ATM)
ENST00000682286.1:n.2859_2860insTA (ATM)
ENST00000682302.1:n.2520_2521insTA (ATM)
ENST00000683174.1:n.9586_9587insTA (ATM)
ENST00000683524.1:n.3326_3327insTA (ATM)
ENST00000684152.1:n.3518_3519insTA (ATM)
ENST00000684180.1:n.576_577insTA (ATM)
ENST00000684447.1:n.4595_4596insTA (ATM)
ENST00000527805.6:c.*3166_*3167insTA (ATM)	ENSP00000435747.2:n.*3166_*3167insTA
ENST00000675595.1:c.*3237_*3238insTA (ATM)	ENSP00000502563.1:n.*3237_*3238insTA
ENST00000675843.1:c.8102_8103insTA (ATM) MANE Select	ENSP00000501606.1:p.Ile2702LysfsTer2
ENST00000278616.8:c.8102_8103insTA (ATM)	ENSP00000278616.4:p.Ile2702LysfsTer2
ENST00000452508.6:c.8102_8103insTA (ATM)	ENSP00000388058.2:p.Ile2702LysfsTer2
ENST00000524755.5:c.299+159_299+160insTA (C11orf65)
ENST00000524792.5:n.4317_4318insTA (ATM)
ENST00000525056.1:n.299_300insTA (ATM)
ENST00000525729.5:c.641-25990_641-25989insTA (C11orf65)	ENSP00000433395.1:n.641-25990_641-25989insTA
ENST00000527531.5:c.*1269+159_*1269+160insTA (C11orf65)	ENSP00000431706.1:n.*1269+159_*1269+160insTA
ENST00000533979.5:n.314_315insTA (ATM)
ENST00000615746.4:c.*1269+159_*1269+160insTA (C11orf65)	ENSP00000483537.1:n.*1269+159_*1269+160insTA
NM_000051.3:c.8102_8103insTA , LRG_135t1:c.8102_8103insTA (ATM)	NP_000042.3:p.Ile2702LysfsTer2
XM_005271414.3:c.*38+159_*38+160insTA (C11orf65)	XP_005271471.1:n.*38+159_*38+160insTA
XM_005271415.3:c.804+159_804+160insTA (C11orf65)	XP_005271472.1:n.804+159_804+160insTA
XM_005271561.3:c.8102_8103insTA (ATM)	XP_005271618.2:p.Ile2702LysfsTer2
XM_005271562.3:c.8102_8103insTA (ATM)	XP_005271619.2:p.Ile2702LysfsTer2
XM_006718843.2:c.8102_8103insTA (ATM)	XP_006718906.1:p.Ile2702LysfsTer2
XM_006718845.1:c.4058_4059insTA (ATM)	XP_006718908.1:p.Ile1354LysfsTer2
XM_011542840.1:c.8102_8103insTA (ATM)	XP_011541142.1:p.Ile2702LysfsTer2
XM_011542841.1:c.8102_8103insTA (ATM)	XP_011541143.1:p.Ile2702LysfsTer2
XM_011542842.1:c.7937_7938insTA (ATM)	XP_011541144.1:p.Ile2647LysfsTer2
XM_011542843.1:c.8102_8103insTA (ATM)	XP_011541145.1:p.Ile2702LysfsTer2
XM_011542844.1:c.7058_7059insTA (ATM)	XP_011541146.1:p.Ile2354LysfsTer2
XM_011542845.1:c.6794_6795insTA (ATM)	XP_011541147.1:p.Ile2266LysfsTer2
XM_011542847.1:c.3173_3174insTA (ATM)	XP_011541149.1:p.Ile1059LysfsTer2
NM_001330368.1:c.641-25990_641-25989insTA (C11orf65)	NP_001317297.1:n.641-25990_641-25989insTA
NM_001351110.1:c.*38+159_*38+160insTA (C11orf65)	NP_001338039.1:n.*38+159_*38+160insTA
NM_001351834.1:c.8102_8103insTA (ATM)	NP_001338763.1:p.Ile2702LysfsTer2
NR_147053.2:n.2374+159_2374+160insTA (C11orf65)
XM_005271414.4:c.*38+159_*38+160insTA (C11orf65)	XP_005271471.1:n.*38+159_*38+160insTA
XM_005271415.4:c.804+159_804+160insTA (C11orf65)	XP_005271472.1:n.804+159_804+160insTA
XM_005271562.5:c.8102_8103insTA (ATM)	XP_005271619.2:p.Ile2702LysfsTer2
XM_006718843.4:c.8102_8103insTA (ATM)	XP_006718906.1:p.Ile2702LysfsTer2
XM_006718845.2:c.4058_4059insTA (ATM)	XP_006718908.1:p.Ile1354LysfsTer2
XM_011542840.3:c.8102_8103insTA (ATM)	XP_011541142.1:p.Ile2702LysfsTer2
XM_011542842.3:c.7937_7938insTA (ATM)	XP_011541144.1:p.Ile2647LysfsTer2
XM_011542843.2:c.8102_8103insTA (ATM)	XP_011541145.1:p.Ile2702LysfsTer2
XM_011542844.3:c.7058_7059insTA (ATM)	XP_011541146.1:p.Ile2354LysfsTer2
XM_011542845.2:c.6794_6795insTA (ATM)	XP_011541147.1:p.Ile2266LysfsTer2
XM_017017789.2:c.8102_8103insTA (ATM)	XP_016873278.1:p.Ile2702LysfsTer2
XM_017017790.2:c.8102_8103insTA (ATM)	XP_016873279.1:p.Ile2702LysfsTer2
NM_001330368.2:c.641-25990_641-25989insTA (C11orf65)	NP_001317297.1:n.641-25990_641-25989insTA
NM_001351110.2:c.*38+159_*38+160insTA (C11orf65)	NP_001338039.1:n.*38+159_*38+160insTA
NM_001351834.2:c.8102_8103insTA (ATM)	NP_001338763.1:p.Ile2702LysfsTer2
NM_000051.4:c.8102_8103insTA (ATM) MANE Select	NP_000042.3:p.Ile2702LysfsTer2
NR_147053.3:n.2372+159_2372+160insTA (C11orf65)