Canonical Allele Identifier: CA2580615059

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2503300
• ClinVar RCV Id: RCV003230134 ; RCV003500820
• gnomAD v4: 11-108326181-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326183dup , CM000673.2:g.108326183dup	GRCh38
NC_000011.9:g.108196910dup , CM000673.1:g.108196910dup	GRCh37
NC_000011.8:g.107702120dup	NCBI36
NG_009830.1:g.108352dup , LRG_135:g.108352dup
NG_054724.1:g.148651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6933dup (ATM)	ENSP00000388058.2:p.Leu2312SerfsTer?
ENST00000713593.1:c.*6404dup (ATM)	ENSP00000518889.1:n.*6404dup
ENST00000278616.9:c.6933dup (ATM)	ENSP00000278616.4:p.Leu2312SerfsTer?
ENST00000525056.2:n.1352dup (ATM)
ENST00000682286.1:n.1690dup (ATM)
ENST00000682302.1:n.1351dup (ATM)
ENST00000683174.1:n.8417dup (ATM)
ENST00000683524.1:n.2157dup (ATM)
ENST00000684152.1:n.2647dup (ATM)
ENST00000527805.6:c.*1997dup (ATM)	ENSP00000435747.2:n.*1997dup
ENST00000675595.1:c.*2068dup (ATM)	ENSP00000502563.1:n.*2068dup
ENST00000675843.1:c.6933dup (ATM) MANE Select	ENSP00000501606.1:p.Leu2312SerfsTer?
ENST00000278616.8:c.6933dup (ATM)	ENSP00000278616.4:p.Leu2312SerfsTer?
ENST00000452508.6:c.6933dup (ATM)	ENSP00000388058.2:p.Leu2312SerfsTer?
ENST00000524792.5:n.3148dup (ATM)
ENST00000525729.5:c.641-17111dup (C11orf65)	ENSP00000433395.1:n.641-17111dup
ENST00000533690.5:n.2337dup (ATM)
NM_000051.3:c.6933dup , LRG_135t1:c.6933dup (ATM)	NP_000042.3:p.Leu2312SerfsTer?
XM_005271561.3:c.6933dup (ATM)	XP_005271618.2:p.Leu2312SerfsTer?
XM_005271562.3:c.6933dup (ATM)	XP_005271619.2:p.Leu2312SerfsTer?
XM_006718843.2:c.6933dup (ATM)	XP_006718906.1:p.Leu2312SerfsTer?
XM_006718845.1:c.2889dup (ATM)	XP_006718908.1:p.Leu964SerfsTer?
XM_011542840.1:c.6933dup (ATM)	XP_011541142.1:p.Leu2312SerfsTer?
XM_011542841.1:c.6933dup (ATM)	XP_011541143.1:p.Leu2312SerfsTer?
XM_011542842.1:c.6768dup (ATM)	XP_011541144.1:p.Leu2257SerfsTer?
XM_011542843.1:c.6933dup (ATM)	XP_011541145.1:p.Leu2312SerfsTer?
XM_011542844.1:c.5889dup (ATM)	XP_011541146.1:p.Leu1964SerfsTer?
XM_011542845.1:c.5625dup (ATM)	XP_011541147.1:p.Leu1876SerfsTer?
XM_011542847.1:c.2004dup (ATM)	XP_011541149.1:p.Leu669SerfsTer?
NM_001330368.1:c.641-17111dup (C11orf65)	NP_001317297.1:n.641-17111dup
NM_001351110.1:c.*38+9038dup (C11orf65)	NP_001338039.1:n.*38+9038dup
NM_001351834.1:c.6933dup (ATM)	NP_001338763.1:p.Leu2312SerfsTer?
XM_005271562.5:c.6933dup (ATM)	XP_005271619.2:p.Leu2312SerfsTer?
XM_006718843.4:c.6933dup (ATM)	XP_006718906.1:p.Leu2312SerfsTer?
XM_006718845.2:c.2889dup (ATM)	XP_006718908.1:p.Leu964SerfsTer?
XM_011542840.3:c.6933dup (ATM)	XP_011541142.1:p.Leu2312SerfsTer?
XM_011542842.3:c.6768dup (ATM)	XP_011541144.1:p.Leu2257SerfsTer?
XM_011542843.2:c.6933dup (ATM)	XP_011541145.1:p.Leu2312SerfsTer?
XM_011542844.3:c.5889dup (ATM)	XP_011541146.1:p.Leu1964SerfsTer?
XM_011542845.2:c.5625dup (ATM)	XP_011541147.1:p.Leu1876SerfsTer?
XM_017017789.2:c.6933dup (ATM)	XP_016873278.1:p.Leu2312SerfsTer?
XM_017017790.2:c.6933dup (ATM)	XP_016873279.1:p.Leu2312SerfsTer?
NM_001330368.2:c.641-17111dup (C11orf65)	NP_001317297.1:n.641-17111dup
NM_001351110.2:c.*38+9038dup (C11orf65)	NP_001338039.1:n.*38+9038dup
NM_001351834.2:c.6933dup (ATM)	NP_001338763.1:p.Leu2312SerfsTer?
NM_000051.4:c.6933dup (ATM) MANE Select	NP_000042.3:p.Leu2312SerfsTer?