Canonical Allele Identifier: CA338094

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 216022
• ClinVar RCV Id: RCV000198667
• dbSNP Id: rs863224461
• MyVariant Identifiers: chr11:g.108196214_108196215insCTCA (hg19) ; chr11:g.108325487_108325488insCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325489_108325492dup , CM000673.2:g.108325489_108325492dup	GRCh38
NC_000011.9:g.108196216_108196219dup , CM000673.1:g.108196216_108196219dup	GRCh37
NC_000011.8:g.107701426_107701429dup	NCBI36
NG_009830.1:g.107658_107661dup , LRG_135:g.107658_107661dup
NG_054724.1:g.149342_149345dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6752_6755dup (ATM)	ENSP00000388058.2:p.Lys2253HisfsTer21
ENST00000713593.1:c.*6223_*6226dup (ATM)	ENSP00000518889.1:n.*6223_*6226dup
ENST00000278616.9:c.6752_6755dup (ATM)	ENSP00000278616.4:p.Lys2253HisfsTer21
ENST00000525056.2:n.1171_1174dup (ATM)
ENST00000682286.1:n.1509_1512dup (ATM)
ENST00000682302.1:n.1170_1173dup (ATM)
ENST00000683174.1:n.8236_8239dup (ATM)
ENST00000683524.1:n.1976_1979dup (ATM)
ENST00000684152.1:n.2466_2469dup (ATM)
ENST00000527805.6:c.*1816_*1819dup (ATM)	ENSP00000435747.2:n.*1816_*1819dup
ENST00000675595.1:c.*1887_*1890dup (ATM)	ENSP00000502563.1:n.*1887_*1890dup
ENST00000675843.1:c.6752_6755dup (ATM) MANE Select	ENSP00000501606.1:p.Lys2253HisfsTer21
ENST00000278616.8:c.6752_6755dup (ATM)	ENSP00000278616.4:p.Lys2253HisfsTer21
ENST00000452508.6:c.6752_6755dup (ATM)	ENSP00000388058.2:p.Lys2253HisfsTer21
ENST00000524792.5:n.2967_2970dup (ATM)
ENST00000525729.5:c.641-16420_641-16417dup (C11orf65)	ENSP00000433395.1:n.641-16420_641-16417dup
ENST00000533690.5:n.2156_2159dup (ATM)
NM_000051.3:c.6752_6755dup , LRG_135t1:c.6752_6755dup (ATM)	NP_000042.3:p.Lys2253HisfsTer21
XM_005271561.3:c.6752_6755dup (ATM)	XP_005271618.2:p.Lys2253HisfsTer21
XM_005271562.3:c.6752_6755dup (ATM)	XP_005271619.2:p.Lys2253HisfsTer21
XM_006718843.2:c.6752_6755dup (ATM)	XP_006718906.1:p.Lys2253HisfsTer21
XM_006718845.1:c.2708_2711dup (ATM)	XP_006718908.1:p.Lys905HisfsTer21
XM_011542840.1:c.6752_6755dup (ATM)	XP_011541142.1:p.Lys2253HisfsTer21
XM_011542841.1:c.6752_6755dup (ATM)	XP_011541143.1:p.Lys2253HisfsTer21
XM_011542842.1:c.6587_6590dup (ATM)	XP_011541144.1:p.Lys2198HisfsTer21
XM_011542843.1:c.6752_6755dup (ATM)	XP_011541145.1:p.Lys2253HisfsTer21
XM_011542844.1:c.5708_5711dup (ATM)	XP_011541146.1:p.Lys1905HisfsTer21
XM_011542845.1:c.5444_5447dup (ATM)	XP_011541147.1:p.Lys1817HisfsTer21
XM_011542847.1:c.1823_1826dup (ATM)	XP_011541149.1:p.Lys610HisfsTer21
NM_001330368.1:c.641-16420_641-16417dup (C11orf65)	NP_001317297.1:n.641-16420_641-16417dup
NM_001351110.1:c.*38+9729_*38+9732dup (C11orf65)	NP_001338039.1:n.*38+9729_*38+9732dup
NM_001351834.1:c.6752_6755dup (ATM)	NP_001338763.1:p.Lys2253HisfsTer21
XM_005271562.5:c.6752_6755dup (ATM)	XP_005271619.2:p.Lys2253HisfsTer21
XM_006718843.4:c.6752_6755dup (ATM)	XP_006718906.1:p.Lys2253HisfsTer21
XM_006718845.2:c.2708_2711dup (ATM)	XP_006718908.1:p.Lys905HisfsTer21
XM_011542840.3:c.6752_6755dup (ATM)	XP_011541142.1:p.Lys2253HisfsTer21
XM_011542842.3:c.6587_6590dup (ATM)	XP_011541144.1:p.Lys2198HisfsTer21
XM_011542843.2:c.6752_6755dup (ATM)	XP_011541145.1:p.Lys2253HisfsTer21
XM_011542844.3:c.5708_5711dup (ATM)	XP_011541146.1:p.Lys1905HisfsTer21
XM_011542845.2:c.5444_5447dup (ATM)	XP_011541147.1:p.Lys1817HisfsTer21
XM_017017789.2:c.6752_6755dup (ATM)	XP_016873278.1:p.Lys2253HisfsTer21
XM_017017790.2:c.6752_6755dup (ATM)	XP_016873279.1:p.Lys2253HisfsTer21
NM_001330368.2:c.641-16420_641-16417dup (C11orf65)	NP_001317297.1:n.641-16420_641-16417dup
NM_001351110.2:c.*38+9729_*38+9732dup (C11orf65)	NP_001338039.1:n.*38+9729_*38+9732dup
NM_001351834.2:c.6752_6755dup (ATM)	NP_001338763.1:p.Lys2253HisfsTer21
NM_000051.4:c.6752_6755dup (ATM) MANE Select	NP_000042.3:p.Lys2253HisfsTer21