Canonical Allele Identifier: CA16606211

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 380364
• ClinVar RCV Id: RCV000433899 ; RCV002392970 ; RCV002521564
• dbSNP Id: rs1057520837
• MyVariant Identifiers: chr11:g.108202166G>A (hg19) ; chr11:g.108331439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331439G>A , CM000673.2:g.108331439G>A	GRCh38
NC_000011.9:g.108202166G>A , CM000673.1:g.108202166G>A	GRCh37
NC_000011.8:g.107707376G>A	NCBI36
NG_009830.1:g.113608G>A , LRG_135:g.113608G>A
NG_054724.1:g.143394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7516-5G>A (ATM)	ENSP00000388058.2:n.7516-5G>A
ENST00000713593.1:c.*6987-5G>A (ATM)	ENSP00000518889.1:n.*6987-5G>A
ENST00000278616.9:c.7516-5G>A (ATM)	ENSP00000278616.4:n.7516-5G>A
ENST00000525056.2:n.1935-5G>A (ATM)
ENST00000525537.3:n.473-5G>A (ATM)
ENST00000638786.2:n.353-5G>A (ATM)
ENST00000682286.1:n.2273-5G>A (ATM)
ENST00000682302.1:n.1934-5G>A (ATM)
ENST00000683174.1:n.9000-5G>A (ATM)
ENST00000683524.1:n.2740-5G>A (ATM)
ENST00000684152.1:n.3230-5G>A (ATM)
ENST00000684447.1:n.1979-5G>A (ATM)
ENST00000527805.6:c.*2580-5G>A (ATM)	ENSP00000435747.2:n.*2580-5G>A
ENST00000675595.1:c.*2651-5G>A (ATM)	ENSP00000502563.1:n.*2651-5G>A
ENST00000675843.1:c.7516-5G>A (ATM) MANE Select	ENSP00000501606.1:n.7516-5G>A
ENST00000278616.8:c.7516-5G>A (ATM)	ENSP00000278616.4:n.7516-5G>A
ENST00000452508.6:c.7516-5G>A (ATM)	ENSP00000388058.2:n.7516-5G>A
ENST00000524755.5:c.428C>T (C11orf65)
ENST00000524792.5:n.3731-5G>A (ATM)
ENST00000525729.5:c.641-22368C>T (C11orf65)	ENSP00000433395.1:n.641-22368C>T
ENST00000527531.5:c.*1398C>T (C11orf65)	ENSP00000431706.1:n.*1398C>T
ENST00000533690.5:n.2920-5G>A (ATM)
ENST00000615746.4:c.*1398C>T (C11orf65)	ENSP00000483537.1:n.*1398C>T
NM_000051.3:c.7516-5G>A , LRG_135t1:c.7516-5G>A (ATM)	NP_000042.3:n.7516-5G>A
XM_005271415.3:c.*111C>T (C11orf65)	XP_005271472.1:n.*111C>T
XM_005271561.3:c.7516-5G>A (ATM)	XP_005271618.2:n.7516-5G>A
XM_005271562.3:c.7516-5G>A (ATM)	XP_005271619.2:n.7516-5G>A
XM_006718843.2:c.7516-5G>A (ATM)	XP_006718906.1:n.7516-5G>A
XM_006718845.1:c.3472-5G>A (ATM)	XP_006718908.1:n.3472-5G>A
XM_011542840.1:c.7516-5G>A (ATM)	XP_011541142.1:n.7516-5G>A
XM_011542841.1:c.7516-5G>A (ATM)	XP_011541143.1:n.7516-5G>A
XM_011542842.1:c.7351-5G>A (ATM)	XP_011541144.1:n.7351-5G>A
XM_011542843.1:c.7516-5G>A (ATM)	XP_011541145.1:n.7516-5G>A
XM_011542844.1:c.6472-5G>A (ATM)	XP_011541146.1:n.6472-5G>A
XM_011542845.1:c.6208-5G>A (ATM)	XP_011541147.1:n.6208-5G>A
XM_011542847.1:c.2587-5G>A (ATM)	XP_011541149.1:n.2587-5G>A
NM_001330368.1:c.641-22368C>T (C11orf65)	NP_001317297.1:n.641-22368C>T
NM_001351110.1:c.*38+3781C>T (C11orf65)	NP_001338039.1:n.*38+3781C>T
NM_001351834.1:c.7516-5G>A (ATM)	NP_001338763.1:n.7516-5G>A
NR_147053.2:n.2503C>T (C11orf65)
XM_005271414.4:c.*167C>T (C11orf65)	XP_005271471.1:n.*167C>T
XM_005271415.4:c.*111C>T (C11orf65)	XP_005271472.1:n.*111C>T
XM_005271562.5:c.7516-5G>A (ATM)	XP_005271619.2:n.7516-5G>A
XM_006718843.4:c.7516-5G>A (ATM)	XP_006718906.1:n.7516-5G>A
XM_006718845.2:c.3472-5G>A (ATM)	XP_006718908.1:n.3472-5G>A
XM_011542840.3:c.7516-5G>A (ATM)	XP_011541142.1:n.7516-5G>A
XM_011542842.3:c.7351-5G>A (ATM)	XP_011541144.1:n.7351-5G>A
XM_011542843.2:c.7516-5G>A (ATM)	XP_011541145.1:n.7516-5G>A
XM_011542844.3:c.6472-5G>A (ATM)	XP_011541146.1:n.6472-5G>A
XM_011542845.2:c.6208-5G>A (ATM)	XP_011541147.1:n.6208-5G>A
XM_017017789.2:c.7516-5G>A (ATM)	XP_016873278.1:n.7516-5G>A
XM_017017790.2:c.7516-5G>A (ATM)	XP_016873279.1:n.7516-5G>A
NM_001330368.2:c.641-22368C>T (C11orf65)	NP_001317297.1:n.641-22368C>T
NM_001351110.2:c.*38+3781C>T (C11orf65)	NP_001338039.1:n.*38+3781C>T
NM_001351834.2:c.7516-5G>A (ATM)	NP_001338763.1:n.7516-5G>A
NM_000051.4:c.7516-5G>A (ATM) MANE Select	NP_000042.3:n.7516-5G>A
NR_147053.3:n.2501C>T (C11orf65)