Canonical Allele Identifier: CA16613193

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 407472
• ClinVar RCV Id: RCV000468442
• dbSNP Id: rs1060501543
• MyVariant Identifiers: chr11:g.108196193_108196194del (hg19) ; chr11:g.108325466_108325467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325466_108325467del , CM000673.2:g.108325466_108325467del	GRCh38
NC_000011.9:g.108196193_108196194del , CM000673.1:g.108196193_108196194del	GRCh37
NC_000011.8:g.107701403_107701404del	NCBI36
NG_009830.1:g.107635_107636del , LRG_135:g.107635_107636del
NG_054724.1:g.149367_149368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6729_6730del (ATM)	ENSP00000388058.2:p.Glu2245MetfsTer3
ENST00000713593.1:c.*6200_*6201del (ATM)	ENSP00000518889.1:n.*6200_*6201del
ENST00000278616.9:c.6729_6730del (ATM)	ENSP00000278616.4:p.Glu2245MetfsTer3
ENST00000525056.2:n.1148_1149del (ATM)
ENST00000682286.1:n.1486_1487del (ATM)
ENST00000682302.1:n.1147_1148del (ATM)
ENST00000683174.1:n.8213_8214del (ATM)
ENST00000683524.1:n.1953_1954del (ATM)
ENST00000684152.1:n.2443_2444del (ATM)
ENST00000527805.6:c.*1793_*1794del (ATM)	ENSP00000435747.2:n.*1793_*1794del
ENST00000675595.1:c.*1864_*1865del (ATM)	ENSP00000502563.1:n.*1864_*1865del
ENST00000675843.1:c.6729_6730del (ATM) MANE Select	ENSP00000501606.1:p.Glu2245MetfsTer3
ENST00000278616.8:c.6729_6730del (ATM)	ENSP00000278616.4:p.Glu2245MetfsTer3
ENST00000452508.6:c.6729_6730del (ATM)	ENSP00000388058.2:p.Glu2245MetfsTer3
ENST00000524792.5:n.2944_2945del (ATM)
ENST00000525729.5:c.641-16395_641-16394del (C11orf65)	ENSP00000433395.1:n.641-16395_641-16394del
ENST00000533690.5:n.2133_2134del (ATM)
NM_000051.3:c.6729_6730del , LRG_135t1:c.6729_6730del (ATM)	NP_000042.3:p.Glu2245MetfsTer3
XM_005271561.3:c.6729_6730del (ATM)	XP_005271618.2:p.Glu2245MetfsTer3
XM_005271562.3:c.6729_6730del (ATM)	XP_005271619.2:p.Glu2245MetfsTer3
XM_006718843.2:c.6729_6730del (ATM)	XP_006718906.1:p.Glu2245MetfsTer3
XM_006718845.1:c.2685_2686del (ATM)	XP_006718908.1:p.Glu897MetfsTer3
XM_011542840.1:c.6729_6730del (ATM)	XP_011541142.1:p.Glu2245MetfsTer3
XM_011542841.1:c.6729_6730del (ATM)	XP_011541143.1:p.Glu2245MetfsTer3
XM_011542842.1:c.6564_6565del (ATM)	XP_011541144.1:p.Glu2190MetfsTer3
XM_011542843.1:c.6729_6730del (ATM)	XP_011541145.1:p.Glu2245MetfsTer3
XM_011542844.1:c.5685_5686del (ATM)	XP_011541146.1:p.Glu1897MetfsTer3
XM_011542845.1:c.5421_5422del (ATM)	XP_011541147.1:p.Glu1809MetfsTer3
XM_011542847.1:c.1800_1801del (ATM)	XP_011541149.1:p.Glu602MetfsTer3
NM_001330368.1:c.641-16395_641-16394del (C11orf65)	NP_001317297.1:n.641-16395_641-16394del
NM_001351110.1:c.*38+9754_*38+9755del (C11orf65)	NP_001338039.1:n.*38+9754_*38+9755del
NM_001351834.1:c.6729_6730del (ATM)	NP_001338763.1:p.Glu2245MetfsTer3
XM_005271562.5:c.6729_6730del (ATM)	XP_005271619.2:p.Glu2245MetfsTer3
XM_006718843.4:c.6729_6730del (ATM)	XP_006718906.1:p.Glu2245MetfsTer3
XM_006718845.2:c.2685_2686del (ATM)	XP_006718908.1:p.Glu897MetfsTer3
XM_011542840.3:c.6729_6730del (ATM)	XP_011541142.1:p.Glu2245MetfsTer3
XM_011542842.3:c.6564_6565del (ATM)	XP_011541144.1:p.Glu2190MetfsTer3
XM_011542843.2:c.6729_6730del (ATM)	XP_011541145.1:p.Glu2245MetfsTer3
XM_011542844.3:c.5685_5686del (ATM)	XP_011541146.1:p.Glu1897MetfsTer3
XM_011542845.2:c.5421_5422del (ATM)	XP_011541147.1:p.Glu1809MetfsTer3
XM_017017789.2:c.6729_6730del (ATM)	XP_016873278.1:p.Glu2245MetfsTer3
XM_017017790.2:c.6729_6730del (ATM)	XP_016873279.1:p.Glu2245MetfsTer3
NM_001330368.2:c.641-16395_641-16394del (C11orf65)	NP_001317297.1:n.641-16395_641-16394del
NM_001351110.2:c.*38+9754_*38+9755del (C11orf65)	NP_001338039.1:n.*38+9754_*38+9755del
NM_001351834.2:c.6729_6730del (ATM)	NP_001338763.1:p.Glu2245MetfsTer3
NM_000051.4:c.6729_6730del (ATM) MANE Select	NP_000042.3:p.Glu2245MetfsTer3