Canonical Allele Identifier: CA476676338

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1620710
• ClinVar RCV Id: RCV002099237
• dbSNP Id: rs2136335688
• MyVariant Identifiers: chr11:g.108196871A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326144A>G , CM000673.2:g.108326144A>G	GRCh38
NC_000011.9:g.108196871A>G , CM000673.1:g.108196871A>G	GRCh37
NC_000011.8:g.107702081A>G	NCBI36
NG_009830.1:g.108313A>G , LRG_135:g.108313A>G
NG_054724.1:g.148689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6894A>G (ATM)	ENSP00000388058.2:p.Val2298=
ENST00000713593.1:c.*6365A>G (ATM)	ENSP00000518889.1:n.*6365A>G
ENST00000278616.9:c.6894A>G (ATM)	ENSP00000278616.4:p.Val2298=
ENST00000525056.2:n.1313A>G (ATM)
ENST00000682286.1:n.1651A>G (ATM)
ENST00000682302.1:n.1312A>G (ATM)
ENST00000683174.1:n.8378A>G (ATM)
ENST00000683524.1:n.2118A>G (ATM)
ENST00000684152.1:n.2608A>G (ATM)
ENST00000527805.6:c.*1958A>G (ATM)	ENSP00000435747.2:n.*1958A>G
ENST00000675595.1:c.*2029A>G (ATM)	ENSP00000502563.1:n.*2029A>G
ENST00000675843.1:c.6894A>G (ATM) MANE Select	ENSP00000501606.1:p.Val2298=
ENST00000278616.8:c.6894A>G (ATM)	ENSP00000278616.4:p.Val2298=
ENST00000452508.6:c.6894A>G (ATM)	ENSP00000388058.2:p.Val2298=
ENST00000524792.5:n.3109A>G (ATM)
ENST00000525729.5:c.641-17073T>C (C11orf65)	ENSP00000433395.1:n.641-17073T>C
ENST00000533690.5:n.2298A>G (ATM)
NM_000051.3:c.6894A>G , LRG_135t1:c.6894A>G (ATM)	NP_000042.3:p.Val2298=
XM_005271561.3:c.6894A>G (ATM)	XP_005271618.2:p.Val2298=
XM_005271562.3:c.6894A>G (ATM)	XP_005271619.2:p.Val2298=
XM_006718843.2:c.6894A>G (ATM)	XP_006718906.1:p.Val2298=
XM_006718845.1:c.2850A>G (ATM)	XP_006718908.1:p.Val950=
XM_011542840.1:c.6894A>G (ATM)	XP_011541142.1:p.Val2298=
XM_011542841.1:c.6894A>G (ATM)	XP_011541143.1:p.Val2298=
XM_011542842.1:c.6729A>G (ATM)	XP_011541144.1:p.Val2243=
XM_011542843.1:c.6894A>G (ATM)	XP_011541145.1:p.Val2298=
XM_011542844.1:c.5850A>G (ATM)	XP_011541146.1:p.Val1950=
XM_011542845.1:c.5586A>G (ATM)	XP_011541147.1:p.Val1862=
XM_011542847.1:c.1965A>G (ATM)	XP_011541149.1:p.Val655=
NM_001330368.1:c.641-17073T>C (C11orf65)	NP_001317297.1:n.641-17073T>C
NM_001351110.1:c.*38+9076T>C (C11orf65)	NP_001338039.1:n.*38+9076T>C
NM_001351834.1:c.6894A>G (ATM)	NP_001338763.1:p.Val2298=
XM_005271562.5:c.6894A>G (ATM)	XP_005271619.2:p.Val2298=
XM_006718843.4:c.6894A>G (ATM)	XP_006718906.1:p.Val2298=
XM_006718845.2:c.2850A>G (ATM)	XP_006718908.1:p.Val950=
XM_011542840.3:c.6894A>G (ATM)	XP_011541142.1:p.Val2298=
XM_011542842.3:c.6729A>G (ATM)	XP_011541144.1:p.Val2243=
XM_011542843.2:c.6894A>G (ATM)	XP_011541145.1:p.Val2298=
XM_011542844.3:c.5850A>G (ATM)	XP_011541146.1:p.Val1950=
XM_011542845.2:c.5586A>G (ATM)	XP_011541147.1:p.Val1862=
XM_017017789.2:c.6894A>G (ATM)	XP_016873278.1:p.Val2298=
XM_017017790.2:c.6894A>G (ATM)	XP_016873279.1:p.Val2298=
NM_001330368.2:c.641-17073T>C (C11orf65)	NP_001317297.1:n.641-17073T>C
NM_001351110.2:c.*38+9076T>C (C11orf65)	NP_001338039.1:n.*38+9076T>C
NM_001351834.2:c.6894A>G (ATM)	NP_001338763.1:p.Val2298=
NM_000051.4:c.6894A>G (ATM) MANE Select	NP_000042.3:p.Val2298=