Canonical Allele Identifier: CA2580083121

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1755866
• ClinVar RCV Id: RCV002362174 ; RCV004052896

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326119_108326129del , CM000673.2:g.108326119_108326129del	GRCh38
NC_000011.9:g.108196846_108196856del , CM000673.1:g.108196846_108196856del	GRCh37
NC_000011.8:g.107702056_107702066del	NCBI36
NG_009830.1:g.108288_108298del , LRG_135:g.108288_108298del
NG_054724.1:g.148707_148717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6869_6879del (ATM)	ENSP00000388058.2:p.Glu2290GlyfsTer?
ENST00000713593.1:c.*6340_*6350del (ATM)	ENSP00000518889.1:n.*6340_*6350del
ENST00000278616.9:c.6869_6879del (ATM)	ENSP00000278616.4:p.Glu2290GlyfsTer?
ENST00000525056.2:n.1288_1298del (ATM)
ENST00000682286.1:n.1626_1636del (ATM)
ENST00000682302.1:n.1287_1297del (ATM)
ENST00000683174.1:n.8353_8363del (ATM)
ENST00000683524.1:n.2093_2103del (ATM)
ENST00000684152.1:n.2583_2593del (ATM)
ENST00000527805.6:c.*1933_*1943del (ATM)	ENSP00000435747.2:n.*1933_*1943del
ENST00000675595.1:c.*2004_*2014del (ATM)	ENSP00000502563.1:n.*2004_*2014del
ENST00000675843.1:c.6869_6879del (ATM) MANE Select	ENSP00000501606.1:p.Glu2290GlyfsTer?
ENST00000278616.8:c.6869_6879del (ATM)	ENSP00000278616.4:p.Glu2290GlyfsTer?
ENST00000452508.6:c.6869_6879del (ATM)	ENSP00000388058.2:p.Glu2290GlyfsTer?
ENST00000524792.5:n.3084_3094del (ATM)
ENST00000525729.5:c.641-17055_641-17045del (C11orf65)	ENSP00000433395.1:n.641-17055_641-17045del
ENST00000533690.5:n.2273_2283del (ATM)
NM_000051.3:c.6869_6879del , LRG_135t1:c.6869_6879del (ATM)	NP_000042.3:p.Glu2290GlyfsTer?
XM_005271561.3:c.6869_6879del (ATM)	XP_005271618.2:p.Glu2290GlyfsTer?
XM_005271562.3:c.6869_6879del (ATM)	XP_005271619.2:p.Glu2290GlyfsTer?
XM_006718843.2:c.6869_6879del (ATM)	XP_006718906.1:p.Glu2290GlyfsTer?
XM_006718845.1:c.2825_2835del (ATM)	XP_006718908.1:p.Glu942GlyfsTer?
XM_011542840.1:c.6869_6879del (ATM)	XP_011541142.1:p.Glu2290GlyfsTer?
XM_011542841.1:c.6869_6879del (ATM)	XP_011541143.1:p.Glu2290GlyfsTer?
XM_011542842.1:c.6704_6714del (ATM)	XP_011541144.1:p.Glu2235GlyfsTer?
XM_011542843.1:c.6869_6879del (ATM)	XP_011541145.1:p.Glu2290GlyfsTer?
XM_011542844.1:c.5825_5835del (ATM)	XP_011541146.1:p.Glu1942GlyfsTer?
XM_011542845.1:c.5561_5571del (ATM)	XP_011541147.1:p.Glu1854GlyfsTer?
XM_011542847.1:c.1940_1950del (ATM)	XP_011541149.1:p.Glu647GlyfsTer?
NM_001330368.1:c.641-17055_641-17045del (C11orf65)	NP_001317297.1:n.641-17055_641-17045del
NM_001351110.1:c.*38+9094_*38+9104del (C11orf65)	NP_001338039.1:n.*38+9094_*38+9104del
NM_001351834.1:c.6869_6879del (ATM)	NP_001338763.1:p.Glu2290GlyfsTer?
XM_005271562.5:c.6869_6879del (ATM)	XP_005271619.2:p.Glu2290GlyfsTer?
XM_006718843.4:c.6869_6879del (ATM)	XP_006718906.1:p.Glu2290GlyfsTer?
XM_006718845.2:c.2825_2835del (ATM)	XP_006718908.1:p.Glu942GlyfsTer?
XM_011542840.3:c.6869_6879del (ATM)	XP_011541142.1:p.Glu2290GlyfsTer?
XM_011542842.3:c.6704_6714del (ATM)	XP_011541144.1:p.Glu2235GlyfsTer?
XM_011542843.2:c.6869_6879del (ATM)	XP_011541145.1:p.Glu2290GlyfsTer?
XM_011542844.3:c.5825_5835del (ATM)	XP_011541146.1:p.Glu1942GlyfsTer?
XM_011542845.2:c.5561_5571del (ATM)	XP_011541147.1:p.Glu1854GlyfsTer?
XM_017017789.2:c.6869_6879del (ATM)	XP_016873278.1:p.Glu2290GlyfsTer?
XM_017017790.2:c.6869_6879del (ATM)	XP_016873279.1:p.Glu2290GlyfsTer?
NM_001330368.2:c.641-17055_641-17045del (C11orf65)	NP_001317297.1:n.641-17055_641-17045del
NM_001351110.2:c.*38+9094_*38+9104del (C11orf65)	NP_001338039.1:n.*38+9094_*38+9104del
NM_001351834.2:c.6869_6879del (ATM)	NP_001338763.1:p.Glu2290GlyfsTer?
NM_000051.4:c.6869_6879del (ATM) MANE Select	NP_000042.3:p.Glu2290GlyfsTer?