Canonical Allele Identifier: CA10584358

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 245879
• ClinVar RCV Id: RCV000236564
• dbSNP Id: rs786202323
• MyVariant Identifiers: chr11:g.108190768_108190769del (hg19) ; chr11:g.108320041_108320042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108320041_108320042del , CM000673.2:g.108320041_108320042del	GRCh38
NC_000011.9:g.108190768_108190769del , CM000673.1:g.108190768_108190769del	GRCh37
NC_000011.8:g.107695978_107695979del	NCBI36
NG_009830.1:g.102210_102211del , LRG_135:g.102210_102211del
NG_054724.1:g.154792_154793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6435_6436del (ATM)	ENSP00000388058.2:p.Leu2147GlnfsTer13
ENST00000713593.1:c.*5906_*5907del (ATM)	ENSP00000518889.1:n.*5906_*5907del
ENST00000278616.9:c.6435_6436del (ATM)	ENSP00000278616.4:p.Leu2147GlnfsTer13
ENST00000525056.2:n.854_855del (ATM)
ENST00000682286.1:n.1192_1193del (ATM)
ENST00000682302.1:n.853_854del (ATM)
ENST00000683174.1:n.7919_7920del (ATM)
ENST00000683524.1:n.1659_1660del (ATM)
ENST00000684152.1:n.2149_2150del (ATM)
ENST00000527805.6:c.*1499_*1500del (ATM)	ENSP00000435747.2:n.*1499_*1500del
ENST00000675595.1:c.*1499_*1500del (ATM)	ENSP00000502563.1:n.*1499_*1500del
ENST00000675843.1:c.6435_6436del (ATM) MANE Select	ENSP00000501606.1:p.Leu2147GlnfsTer13
ENST00000278616.8:c.6435_6436del (ATM)	ENSP00000278616.4:p.Leu2147GlnfsTer13
ENST00000452508.6:c.6435_6436del (ATM)	ENSP00000388058.2:p.Leu2147GlnfsTer13
ENST00000524792.5:n.2650_2651del (ATM)
ENST00000525729.5:c.641-10970_641-10969del (C11orf65)	ENSP00000433395.1:n.641-10970_641-10969del
ENST00000533690.5:n.1839_1840del (ATM)
NM_000051.3:c.6435_6436del , LRG_135t1:c.6435_6436del (ATM)	NP_000042.3:p.Leu2147GlnfsTer13
XM_005271561.3:c.6435_6436del (ATM)	XP_005271618.2:p.Leu2147GlnfsTer13
XM_005271562.3:c.6435_6436del (ATM)	XP_005271619.2:p.Leu2147GlnfsTer13
XM_006718843.2:c.6435_6436del (ATM)	XP_006718906.1:p.Leu2147GlnfsTer13
XM_006718845.1:c.2391_2392del (ATM)	XP_006718908.1:p.Leu799GlnfsTer13
XM_011542840.1:c.6435_6436del (ATM)	XP_011541142.1:p.Leu2147GlnfsTer13
XM_011542841.1:c.6435_6436del (ATM)	XP_011541143.1:p.Leu2147GlnfsTer13
XM_011542842.1:c.6270_6271del (ATM)	XP_011541144.1:p.Leu2092GlnfsTer13
XM_011542843.1:c.6435_6436del (ATM)	XP_011541145.1:p.Leu2147GlnfsTer13
XM_011542844.1:c.5391_5392del (ATM)	XP_011541146.1:p.Leu1799GlnfsTer13
XM_011542845.1:c.5127_5128del (ATM)	XP_011541147.1:p.Leu1711GlnfsTer13
XM_011542847.1:c.1506_1507del (ATM)	XP_011541149.1:p.Leu504GlnfsTer13
NM_001330368.1:c.641-10970_641-10969del (C11orf65)	NP_001317297.1:n.641-10970_641-10969del
NM_001351110.1:c.*39-10970_*39-10969del (C11orf65)	NP_001338039.1:n.*39-10970_*39-10969del
NM_001351834.1:c.6435_6436del (ATM)	NP_001338763.1:p.Leu2147GlnfsTer13
XM_005271562.5:c.6435_6436del (ATM)	XP_005271619.2:p.Leu2147GlnfsTer13
XM_006718843.4:c.6435_6436del (ATM)	XP_006718906.1:p.Leu2147GlnfsTer13
XM_006718845.2:c.2391_2392del (ATM)	XP_006718908.1:p.Leu799GlnfsTer13
XM_011542840.3:c.6435_6436del (ATM)	XP_011541142.1:p.Leu2147GlnfsTer13
XM_011542842.3:c.6270_6271del (ATM)	XP_011541144.1:p.Leu2092GlnfsTer13
XM_011542843.2:c.6435_6436del (ATM)	XP_011541145.1:p.Leu2147GlnfsTer13
XM_011542844.3:c.5391_5392del (ATM)	XP_011541146.1:p.Leu1799GlnfsTer13
XM_011542845.2:c.5127_5128del (ATM)	XP_011541147.1:p.Leu1711GlnfsTer13
XM_017017789.2:c.6435_6436del (ATM)	XP_016873278.1:p.Leu2147GlnfsTer13
XM_017017790.2:c.6435_6436del (ATM)	XP_016873279.1:p.Leu2147GlnfsTer13
XM_017017791.1:c.6435_6436del (ATM)	XP_016873280.1:p.Leu2147GlnfsTer14
NM_001330368.2:c.641-10970_641-10969del (C11orf65)	NP_001317297.1:n.641-10970_641-10969del
NM_001351110.2:c.*39-10970_*39-10969del (C11orf65)	NP_001338039.1:n.*39-10970_*39-10969del
NM_001351834.2:c.6435_6436del (ATM)	NP_001338763.1:p.Leu2147GlnfsTer13
NM_000051.4:c.6435_6436del (ATM) MANE Select	NP_000042.3:p.Leu2147GlnfsTer13