Canonical Allele Identifier: CA891842778

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 580281
• ClinVar RCV Id: RCV000703769
• dbSNP Id: rs1565540673
• MyVariant Identifiers: chr11:g.108205733_108205734del (hg19) ; chr11:g.108335006_108335007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335006_108335007del , CM000673.2:g.108335006_108335007del	GRCh38
NC_000011.9:g.108205733_108205734del , CM000673.1:g.108205733_108205734del	GRCh37
NC_000011.8:g.107710943_107710944del	NCBI36
NG_009830.1:g.117175_117176del , LRG_135:g.117175_117176del
NG_054724.1:g.139828_139829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8048_8049del (ATM)	ENSP00000388058.2:p.Ile2683ThrfsTer4
ENST00000713593.1:c.*7519_*7520del (ATM)	ENSP00000518889.1:n.*7519_*7520del
ENST00000278616.9:c.8048_8049del (ATM)	ENSP00000278616.4:p.Ile2683ThrfsTer4
ENST00000525056.2:n.2467_2468del (ATM)
ENST00000638786.2:n.746_747del (ATM)
ENST00000682286.1:n.2805_2806del (ATM)
ENST00000682302.1:n.2466_2467del (ATM)
ENST00000683174.1:n.9532_9533del (ATM)
ENST00000683524.1:n.3272_3273del (ATM)
ENST00000684152.1:n.3464_3465del (ATM)
ENST00000684180.1:n.522_523del (ATM)
ENST00000684447.1:n.4541_4542del (ATM)
ENST00000527805.6:c.*3112_*3113del (ATM)	ENSP00000435747.2:n.*3112_*3113del
ENST00000675595.1:c.*3183_*3184del (ATM)	ENSP00000502563.1:n.*3183_*3184del
ENST00000675843.1:c.8048_8049del (ATM) MANE Select	ENSP00000501606.1:p.Ile2683ThrfsTer4
ENST00000278616.8:c.8048_8049del (ATM)	ENSP00000278616.4:p.Ile2683ThrfsTer4
ENST00000452508.6:c.8048_8049del (ATM)	ENSP00000388058.2:p.Ile2683ThrfsTer4
ENST00000524755.5:c.299+215_299+216del (C11orf65)
ENST00000524792.5:n.4263_4264del (ATM)
ENST00000525056.1:n.245_246del (ATM)
ENST00000525729.5:c.641-25934_641-25933del (C11orf65)	ENSP00000433395.1:n.641-25934_641-25933del
ENST00000527531.5:c.*1269+215_*1269+216del (C11orf65)	ENSP00000431706.1:n.*1269+215_*1269+216del
ENST00000533979.5:n.260_261del (ATM)
ENST00000615746.4:c.*1269+215_*1269+216del (C11orf65)	ENSP00000483537.1:n.*1269+215_*1269+216del
NM_000051.3:c.8048_8049del , LRG_135t1:c.8048_8049del (ATM)	NP_000042.3:p.Ile2683ThrfsTer4
XM_005271414.3:c.*38+215_*38+216del (C11orf65)	XP_005271471.1:n.*38+215_*38+216del
XM_005271415.3:c.804+215_804+216del (C11orf65)	XP_005271472.1:n.804+215_804+216del
XM_005271561.3:c.8048_8049del (ATM)	XP_005271618.2:p.Ile2683ThrfsTer4
XM_005271562.3:c.8048_8049del (ATM)	XP_005271619.2:p.Ile2683ThrfsTer4
XM_006718843.2:c.8048_8049del (ATM)	XP_006718906.1:p.Ile2683ThrfsTer4
XM_006718845.1:c.4004_4005del (ATM)	XP_006718908.1:p.Ile1335ThrfsTer4
XM_011542840.1:c.8048_8049del (ATM)	XP_011541142.1:p.Ile2683ThrfsTer4
XM_011542841.1:c.8048_8049del (ATM)	XP_011541143.1:p.Ile2683ThrfsTer4
XM_011542842.1:c.7883_7884del (ATM)	XP_011541144.1:p.Ile2628ThrfsTer4
XM_011542843.1:c.8048_8049del (ATM)	XP_011541145.1:p.Ile2683ThrfsTer4
XM_011542844.1:c.7004_7005del (ATM)	XP_011541146.1:p.Ile2335ThrfsTer4
XM_011542845.1:c.6740_6741del (ATM)	XP_011541147.1:p.Ile2247ThrfsTer4
XM_011542847.1:c.3119_3120del (ATM)	XP_011541149.1:p.Ile1040ThrfsTer4
NM_001330368.1:c.641-25934_641-25933del (C11orf65)	NP_001317297.1:n.641-25934_641-25933del
NM_001351110.1:c.*38+215_*38+216del (C11orf65)	NP_001338039.1:n.*38+215_*38+216del
NM_001351834.1:c.8048_8049del (ATM)	NP_001338763.1:p.Ile2683ThrfsTer4
NR_147053.2:n.2374+215_2374+216del (C11orf65)
XM_005271414.4:c.*38+215_*38+216del (C11orf65)	XP_005271471.1:n.*38+215_*38+216del
XM_005271415.4:c.804+215_804+216del (C11orf65)	XP_005271472.1:n.804+215_804+216del
XM_005271562.5:c.8048_8049del (ATM)	XP_005271619.2:p.Ile2683ThrfsTer4
XM_006718843.4:c.8048_8049del (ATM)	XP_006718906.1:p.Ile2683ThrfsTer4
XM_006718845.2:c.4004_4005del (ATM)	XP_006718908.1:p.Ile1335ThrfsTer4
XM_011542840.3:c.8048_8049del (ATM)	XP_011541142.1:p.Ile2683ThrfsTer4
XM_011542842.3:c.7883_7884del (ATM)	XP_011541144.1:p.Ile2628ThrfsTer4
XM_011542843.2:c.8048_8049del (ATM)	XP_011541145.1:p.Ile2683ThrfsTer4
XM_011542844.3:c.7004_7005del (ATM)	XP_011541146.1:p.Ile2335ThrfsTer4
XM_011542845.2:c.6740_6741del (ATM)	XP_011541147.1:p.Ile2247ThrfsTer4
XM_017017789.2:c.8048_8049del (ATM)	XP_016873278.1:p.Ile2683ThrfsTer4
XM_017017790.2:c.8048_8049del (ATM)	XP_016873279.1:p.Ile2683ThrfsTer4
NM_001330368.2:c.641-25934_641-25933del (C11orf65)	NP_001317297.1:n.641-25934_641-25933del
NM_001351110.2:c.*38+215_*38+216del (C11orf65)	NP_001338039.1:n.*38+215_*38+216del
NM_001351834.2:c.8048_8049del (ATM)	NP_001338763.1:p.Ile2683ThrfsTer4
NM_000051.4:c.8048_8049del (ATM) MANE Select	NP_000042.3:p.Ile2683ThrfsTer4
NR_147053.3:n.2372+215_2372+216del (C11orf65)