Canonical Allele Identifier: CA658656266

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 485210
• ClinVar RCV Id: RCV000564385
• dbSNP Id: rs1555119247
• MyVariant Identifiers: chr11:g.108196212dup (hg19) ; chr11:g.108325485dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325485dup , CM000673.2:g.108325485dup	GRCh38
NC_000011.9:g.108196212dup , CM000673.1:g.108196212dup	GRCh37
NC_000011.8:g.107701422dup	NCBI36
NG_009830.1:g.107654dup , LRG_135:g.107654dup
NG_054724.1:g.149348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6748dup (ATM)	ENSP00000388058.2:p.Ile2250AsnfsTer23
ENST00000713593.1:c.*6219dup (ATM)	ENSP00000518889.1:n.*6219dup
ENST00000278616.9:c.6748dup (ATM)	ENSP00000278616.4:p.Ile2250AsnfsTer23
ENST00000525056.2:n.1167dup (ATM)
ENST00000682286.1:n.1505dup (ATM)
ENST00000682302.1:n.1166dup (ATM)
ENST00000683174.1:n.8232dup (ATM)
ENST00000683524.1:n.1972dup (ATM)
ENST00000684152.1:n.2462dup (ATM)
ENST00000527805.6:c.*1812dup (ATM)	ENSP00000435747.2:n.*1812dup
ENST00000675595.1:c.*1883dup (ATM)	ENSP00000502563.1:n.*1883dup
ENST00000675843.1:c.6748dup (ATM) MANE Select	ENSP00000501606.1:p.Ile2250AsnfsTer23
ENST00000278616.8:c.6748dup (ATM)	ENSP00000278616.4:p.Ile2250AsnfsTer23
ENST00000452508.6:c.6748dup (ATM)	ENSP00000388058.2:p.Ile2250AsnfsTer23
ENST00000524792.5:n.2963dup (ATM)
ENST00000525729.5:c.641-16414dup (C11orf65)	ENSP00000433395.1:n.641-16414dup
ENST00000533690.5:n.2152dup (ATM)
NM_000051.3:c.6748dup , LRG_135t1:c.6748dup (ATM)	NP_000042.3:p.Ile2250AsnfsTer23
XM_005271561.3:c.6748dup (ATM)	XP_005271618.2:p.Ile2250AsnfsTer23
XM_005271562.3:c.6748dup (ATM)	XP_005271619.2:p.Ile2250AsnfsTer23
XM_006718843.2:c.6748dup (ATM)	XP_006718906.1:p.Ile2250AsnfsTer23
XM_006718845.1:c.2704dup (ATM)	XP_006718908.1:p.Ile902AsnfsTer23
XM_011542840.1:c.6748dup (ATM)	XP_011541142.1:p.Ile2250AsnfsTer23
XM_011542841.1:c.6748dup (ATM)	XP_011541143.1:p.Ile2250AsnfsTer23
XM_011542842.1:c.6583dup (ATM)	XP_011541144.1:p.Ile2195AsnfsTer23
XM_011542843.1:c.6748dup (ATM)	XP_011541145.1:p.Ile2250AsnfsTer23
XM_011542844.1:c.5704dup (ATM)	XP_011541146.1:p.Ile1902AsnfsTer23
XM_011542845.1:c.5440dup (ATM)	XP_011541147.1:p.Ile1814AsnfsTer23
XM_011542847.1:c.1819dup (ATM)	XP_011541149.1:p.Ile607AsnfsTer23
NM_001330368.1:c.641-16414dup (C11orf65)	NP_001317297.1:n.641-16414dup
NM_001351110.1:c.*38+9735dup (C11orf65)	NP_001338039.1:n.*38+9735dup
NM_001351834.1:c.6748dup (ATM)	NP_001338763.1:p.Ile2250AsnfsTer23
XM_005271562.5:c.6748dup (ATM)	XP_005271619.2:p.Ile2250AsnfsTer23
XM_006718843.4:c.6748dup (ATM)	XP_006718906.1:p.Ile2250AsnfsTer23
XM_006718845.2:c.2704dup (ATM)	XP_006718908.1:p.Ile902AsnfsTer23
XM_011542840.3:c.6748dup (ATM)	XP_011541142.1:p.Ile2250AsnfsTer23
XM_011542842.3:c.6583dup (ATM)	XP_011541144.1:p.Ile2195AsnfsTer23
XM_011542843.2:c.6748dup (ATM)	XP_011541145.1:p.Ile2250AsnfsTer23
XM_011542844.3:c.5704dup (ATM)	XP_011541146.1:p.Ile1902AsnfsTer23
XM_011542845.2:c.5440dup (ATM)	XP_011541147.1:p.Ile1814AsnfsTer23
XM_017017789.2:c.6748dup (ATM)	XP_016873278.1:p.Ile2250AsnfsTer23
XM_017017790.2:c.6748dup (ATM)	XP_016873279.1:p.Ile2250AsnfsTer23
NM_001330368.2:c.641-16414dup (C11orf65)	NP_001317297.1:n.641-16414dup
NM_001351110.2:c.*38+9735dup (C11orf65)	NP_001338039.1:n.*38+9735dup
NM_001351834.2:c.6748dup (ATM)	NP_001338763.1:p.Ile2250AsnfsTer23
NM_000051.4:c.6748dup (ATM) MANE Select	NP_000042.3:p.Ile2250AsnfsTer23