Canonical Allele Identifier: CA382516683

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1763204
• ClinVar RCV Id: RCV002434864
• gnomAD v4: 11-108343351-C-A
• MyVariant Identifiers: chr11:g.108214078C>A (hg19) ; chr11:g.108343351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343351C>A , CM000673.2:g.108343351C>A	GRCh38
NC_000011.9:g.108214078C>A , CM000673.1:g.108214078C>A	GRCh37
NC_000011.8:g.107719288C>A	NCBI36
NG_009830.1:g.125520C>A , LRG_135:g.125520C>A
NG_054724.1:g.131482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8398C>A (ATM)	ENSP00000388058.2:p.Gln2800Lys
ENST00000713593.1:c.*7869C>A (ATM)	ENSP00000518889.1:n.*7869C>A
ENST00000278616.9:c.8398C>A (ATM)	ENSP00000278616.4:p.Gln2800Lys
ENST00000638786.2:n.1096C>A (ATM)
ENST00000682286.1:n.3155C>A (ATM)
ENST00000682302.1:n.2816C>A (ATM)
ENST00000683174.1:n.9882C>A (ATM)
ENST00000683524.1:n.3622C>A (ATM)
ENST00000684152.1:n.3814C>A (ATM)
ENST00000684180.1:n.872C>A (ATM)
ENST00000684447.1:n.4891C>A (ATM)
ENST00000527805.6:c.*3462C>A (ATM)	ENSP00000435747.2:n.*3462C>A
ENST00000675595.1:c.*3533C>A (ATM)	ENSP00000502563.1:n.*3533C>A
ENST00000675843.1:c.8398C>A (ATM) MANE Select	ENSP00000501606.1:p.Gln2800Lys
ENST00000278616.8:c.8398C>A (ATM)	ENSP00000278616.4:p.Gln2800Lys
ENST00000452508.6:c.8398C>A (ATM)	ENSP00000388058.2:p.Gln2800Lys
ENST00000524755.5:c.227-8059G>T (C11orf65)
ENST00000524792.5:n.4613C>A (ATM)
ENST00000525729.5:c.641-34280G>T (C11orf65)	ENSP00000433395.1:n.641-34280G>T
ENST00000526725.1:n.272-2987G>T (C11orf65)
ENST00000527531.5:c.*1197-8059G>T (C11orf65)	ENSP00000431706.1:n.*1197-8059G>T
ENST00000615746.4:c.*1197-8059G>T (C11orf65)	ENSP00000483537.1:n.*1197-8059G>T
NM_000051.3:c.8398C>A , LRG_135t1:c.8398C>A (ATM)	NP_000042.3:p.Gln2800Lys
XM_005271414.3:c.788-8059G>T (C11orf65)	XP_005271471.1:n.788-8059G>T
XM_005271415.3:c.732-8059G>T (C11orf65)	XP_005271472.1:n.732-8059G>T
XM_005271561.3:c.8398C>A (ATM)	XP_005271618.2:p.Gln2800Lys
XM_005271562.3:c.8398C>A (ATM)	XP_005271619.2:p.Gln2800Lys
XM_006718843.2:c.8398C>A (ATM)	XP_006718906.1:p.Gln2800Lys
XM_006718845.1:c.4354C>A (ATM)	XP_006718908.1:p.Gln1452Lys
XM_011542640.1:c.788-2987G>T (C11orf65)	XP_011540942.1:n.788-2987G>T
XM_011542643.1:c.732-2987G>T (C11orf65)	XP_011540945.1:n.732-2987G>T
XM_011542840.1:c.8398C>A (ATM)	XP_011541142.1:p.Gln2800Lys
XM_011542841.1:c.8398C>A (ATM)	XP_011541143.1:p.Gln2800Lys
XM_011542842.1:c.8233C>A (ATM)	XP_011541144.1:p.Gln2745Lys
XM_011542843.1:c.8398C>A (ATM)	XP_011541145.1:p.Gln2800Lys
XM_011542844.1:c.7354C>A (ATM)	XP_011541146.1:p.Gln2452Lys
XM_011542845.1:c.7090C>A (ATM)	XP_011541147.1:p.Gln2364Lys
XM_011542847.1:c.3469C>A (ATM)	XP_011541149.1:p.Gln1157Lys
NM_001330368.1:c.641-34280G>T (C11orf65)	NP_001317297.1:n.641-34280G>T
NM_001351110.1:c.695-8059G>T (C11orf65)	NP_001338039.1:n.695-8059G>T
NM_001351834.1:c.8398C>A (ATM)	NP_001338763.1:p.Gln2800Lys
NR_147053.2:n.2302-8059G>T (C11orf65)
XM_005271414.4:c.788-8059G>T (C11orf65)	XP_005271471.1:n.788-8059G>T
XM_005271415.4:c.732-8059G>T (C11orf65)	XP_005271472.1:n.732-8059G>T
XM_005271562.5:c.8398C>A (ATM)	XP_005271619.2:p.Gln2800Lys
XM_006718843.4:c.8398C>A (ATM)	XP_006718906.1:p.Gln2800Lys
XM_006718845.2:c.4354C>A (ATM)	XP_006718908.1:p.Gln1452Lys
XM_011542640.2:c.788-2987G>T (C11orf65)	XP_011540942.1:n.788-2987G>T
XM_011542643.2:c.732-2987G>T (C11orf65)	XP_011540945.1:n.732-2987G>T
XM_011542840.3:c.8398C>A (ATM)	XP_011541142.1:p.Gln2800Lys
XM_011542842.3:c.8233C>A (ATM)	XP_011541144.1:p.Gln2745Lys
XM_011542843.2:c.8398C>A (ATM)	XP_011541145.1:p.Gln2800Lys
XM_011542844.3:c.7354C>A (ATM)	XP_011541146.1:p.Gln2452Lys
XM_011542845.2:c.7090C>A (ATM)	XP_011541147.1:p.Gln2364Lys
XM_017017247.1:c.904-2987G>T (C11orf65)	XP_016872736.1:n.904-2987G>T
XM_017017789.2:c.8398C>A (ATM)	XP_016873278.1:p.Gln2800Lys
XM_017017790.2:c.8398C>A (ATM)	XP_016873279.1:p.Gln2800Lys
NM_001330368.2:c.641-34280G>T (C11orf65)	NP_001317297.1:n.641-34280G>T
NM_001351110.2:c.695-8059G>T (C11orf65)	NP_001338039.1:n.695-8059G>T
NM_001351834.2:c.8398C>A (ATM)	NP_001338763.1:p.Gln2800Lys
NM_000051.4:c.8398C>A (ATM) MANE Select	NP_000042.3:p.Gln2800Lys
NR_147053.3:n.2300-8059G>T (C11orf65)