Canonical Allele Identifier: CA382561387

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 827290
• ClinVar RCV Id: RCV001026878 ; RCV001042524 ; RCV003467692 ; RCV003492211
• dbSNP Id: rs1427723678
• gnomAD v4: 11-108332831-G-C
• MyVariant Identifiers: chr11:g.108203558G>C (hg19) ; chr11:g.108332831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332831G>C , CM000673.2:g.108332831G>C	GRCh38
NC_000011.9:g.108203558G>C , CM000673.1:g.108203558G>C	GRCh37
NC_000011.8:g.107708768G>C	NCBI36
NG_009830.1:g.115000G>C , LRG_135:g.115000G>C
NG_054724.1:g.142002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7858G>C (ATM)	ENSP00000388058.2:p.Val2620Leu
ENST00000713593.1:c.*7329G>C (ATM)	ENSP00000518889.1:n.*7329G>C
ENST00000278616.9:c.7858G>C (ATM)	ENSP00000278616.4:p.Val2620Leu
ENST00000525056.2:n.2277G>C (ATM)
ENST00000525537.3:n.1539G>C (ATM)
ENST00000638786.2:n.625+794G>C (ATM)
ENST00000682286.1:n.2615G>C (ATM)
ENST00000682302.1:n.2276G>C (ATM)
ENST00000683174.1:n.9342G>C (ATM)
ENST00000683524.1:n.3082G>C (ATM)
ENST00000684152.1:n.3344-1055G>C (ATM)
ENST00000684180.1:n.332G>C (ATM)
ENST00000684447.1:n.3366G>C (ATM)
ENST00000527805.6:c.*2922G>C (ATM)	ENSP00000435747.2:n.*2922G>C
ENST00000675595.1:c.*2993G>C (ATM)	ENSP00000502563.1:n.*2993G>C
ENST00000675843.1:c.7858G>C (ATM) MANE Select	ENSP00000501606.1:p.Val2620Leu
ENST00000278616.8:c.7858G>C (ATM)	ENSP00000278616.4:p.Val2620Leu
ENST00000452508.6:c.7858G>C (ATM)	ENSP00000388058.2:p.Val2620Leu
ENST00000524755.5:c.300-1264C>G (C11orf65)
ENST00000524792.5:n.4073G>C (ATM)
ENST00000525056.1:n.55G>C (ATM)
ENST00000525729.5:c.641-23760C>G (C11orf65)	ENSP00000433395.1:n.641-23760C>G
ENST00000527531.5:c.*1270-1264C>G (C11orf65)	ENSP00000431706.1:n.*1270-1264C>G
ENST00000533690.5:n.3262G>C (ATM)
ENST00000533979.5:n.70G>C (ATM)
ENST00000615746.4:c.*1270-1264C>G (C11orf65)	ENSP00000483537.1:n.*1270-1264C>G
NM_000051.3:c.7858G>C , LRG_135t1:c.7858G>C (ATM)	NP_000042.3:p.Val2620Leu
XM_005271414.3:c.*39-1264C>G (C11orf65)	XP_005271471.1:n.*39-1264C>G
XM_005271415.3:c.805-1264C>G (C11orf65)	XP_005271472.1:n.805-1264C>G
XM_005271561.3:c.7858G>C (ATM)	XP_005271618.2:p.Val2620Leu
XM_005271562.3:c.7858G>C (ATM)	XP_005271619.2:p.Val2620Leu
XM_006718843.2:c.7858G>C (ATM)	XP_006718906.1:p.Val2620Leu
XM_006718845.1:c.3814G>C (ATM)	XP_006718908.1:p.Val1272Leu
XM_011542840.1:c.7858G>C (ATM)	XP_011541142.1:p.Val2620Leu
XM_011542841.1:c.7858G>C (ATM)	XP_011541143.1:p.Val2620Leu
XM_011542842.1:c.7693G>C (ATM)	XP_011541144.1:p.Val2565Leu
XM_011542843.1:c.7858G>C (ATM)	XP_011541145.1:p.Val2620Leu
XM_011542844.1:c.6814G>C (ATM)	XP_011541146.1:p.Val2272Leu
XM_011542845.1:c.6550G>C (ATM)	XP_011541147.1:p.Val2184Leu
XM_011542847.1:c.2929G>C (ATM)	XP_011541149.1:p.Val977Leu
NM_001330368.1:c.641-23760C>G (C11orf65)	NP_001317297.1:n.641-23760C>G
NM_001351110.1:c.*38+2389C>G (C11orf65)	NP_001338039.1:n.*38+2389C>G
NM_001351834.1:c.7858G>C (ATM)	NP_001338763.1:p.Val2620Leu
NR_147053.2:n.2375-1264C>G (C11orf65)
XM_005271414.4:c.*39-1264C>G (C11orf65)	XP_005271471.1:n.*39-1264C>G
XM_005271415.4:c.805-1264C>G (C11orf65)	XP_005271472.1:n.805-1264C>G
XM_005271562.5:c.7858G>C (ATM)	XP_005271619.2:p.Val2620Leu
XM_006718843.4:c.7858G>C (ATM)	XP_006718906.1:p.Val2620Leu
XM_006718845.2:c.3814G>C (ATM)	XP_006718908.1:p.Val1272Leu
XM_011542840.3:c.7858G>C (ATM)	XP_011541142.1:p.Val2620Leu
XM_011542842.3:c.7693G>C (ATM)	XP_011541144.1:p.Val2565Leu
XM_011542843.2:c.7858G>C (ATM)	XP_011541145.1:p.Val2620Leu
XM_011542844.3:c.6814G>C (ATM)	XP_011541146.1:p.Val2272Leu
XM_011542845.2:c.6550G>C (ATM)	XP_011541147.1:p.Val2184Leu
XM_017017789.2:c.7858G>C (ATM)	XP_016873278.1:p.Val2620Leu
XM_017017790.2:c.7858G>C (ATM)	XP_016873279.1:p.Val2620Leu
NM_001330368.2:c.641-23760C>G (C11orf65)	NP_001317297.1:n.641-23760C>G
NM_001351110.2:c.*38+2389C>G (C11orf65)	NP_001338039.1:n.*38+2389C>G
NM_001351834.2:c.7858G>C (ATM)	NP_001338763.1:p.Val2620Leu
NM_000051.4:c.7858G>C (ATM) MANE Select	NP_000042.3:p.Val2620Leu
NR_147053.3:n.2373-1264C>G (C11orf65)