Canonical Allele Identifier: CA382560876

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 581154
• ClinVar RCV Id: RCV000704900 ; RCV001026637 ; RCV004026672
• dbSNP Id: rs1565532703
• COSMIC: COSM4746031 ; COSM4746032
• MyVariant Identifiers: chr11:g.108202285G>A (hg19) ; chr11:g.108331558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331558G>A , CM000673.2:g.108331558G>A	GRCh38
NC_000011.9:g.108202285G>A , CM000673.1:g.108202285G>A	GRCh37
NC_000011.8:g.107707495G>A	NCBI36
NG_009830.1:g.113727G>A , LRG_135:g.113727G>A
NG_054724.1:g.143275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7629+1G>A (ATM)	ENSP00000388058.2:n.7629+1G>A
ENST00000713593.1:c.*7100+1G>A (ATM)	ENSP00000518889.1:n.*7100+1G>A
ENST00000278616.9:c.7629+1G>A (ATM)	ENSP00000278616.4:n.7629+1G>A
ENST00000525056.2:n.2048+1G>A (ATM)
ENST00000525537.3:n.586+1G>A (ATM)
ENST00000638786.2:n.466+1G>A (ATM)
ENST00000682286.1:n.2386+1G>A (ATM)
ENST00000682302.1:n.2047+1G>A (ATM)
ENST00000683174.1:n.9113+1G>A (ATM)
ENST00000683524.1:n.2853+1G>A (ATM)
ENST00000684152.1:n.3343+1G>A (ATM)
ENST00000684447.1:n.2093G>A (ATM)
ENST00000527805.6:c.*2693+1G>A (ATM)	ENSP00000435747.2:n.*2693+1G>A
ENST00000675595.1:c.*2764+1G>A (ATM)	ENSP00000502563.1:n.*2764+1G>A
ENST00000675843.1:c.7629+1G>A (ATM) MANE Select	ENSP00000501606.1:n.7629+1G>A
ENST00000278616.8:c.7629+1G>A (ATM)	ENSP00000278616.4:n.7629+1G>A
ENST00000452508.6:c.7629+1G>A (ATM)	ENSP00000388058.2:n.7629+1G>A
ENST00000524755.5:c.309C>T (C11orf65)
ENST00000524792.5:n.3844+1G>A (ATM)
ENST00000525729.5:c.641-22487C>T (C11orf65)	ENSP00000433395.1:n.641-22487C>T
ENST00000527531.5:c.*1279C>T (C11orf65)	ENSP00000431706.1:n.*1279C>T
ENST00000533690.5:n.3033+1G>A (ATM)
ENST00000615746.4:c.*1279C>T (C11orf65)	ENSP00000483537.1:n.*1279C>T
NM_000051.3:c.7629+1G>A , LRG_135t1:c.7629+1G>A (ATM)	NP_000042.3:n.7629+1G>A
XM_005271414.3:c.*48C>T (C11orf65)	XP_005271471.1:n.*48C>T
XM_005271415.3:c.814C>T (C11orf65)	XP_005271472.1:p.His272Tyr
XM_005271561.3:c.7629+1G>A (ATM)	XP_005271618.2:n.7629+1G>A
XM_005271562.3:c.7629+1G>A (ATM)	XP_005271619.2:n.7629+1G>A
XM_006718843.2:c.7629+1G>A (ATM)	XP_006718906.1:n.7629+1G>A
XM_006718845.1:c.3585+1G>A (ATM)	XP_006718908.1:n.3585+1G>A
XM_011542840.1:c.7629+1G>A (ATM)	XP_011541142.1:n.7629+1G>A
XM_011542841.1:c.7629+1G>A (ATM)	XP_011541143.1:n.7629+1G>A
XM_011542842.1:c.7464+1G>A (ATM)	XP_011541144.1:n.7464+1G>A
XM_011542843.1:c.7629+1G>A (ATM)	XP_011541145.1:n.7629+1G>A
XM_011542844.1:c.6585+1G>A (ATM)	XP_011541146.1:n.6585+1G>A
XM_011542845.1:c.6321+1G>A (ATM)	XP_011541147.1:n.6321+1G>A
XM_011542847.1:c.2700+1G>A (ATM)	XP_011541149.1:n.2700+1G>A
NM_001330368.1:c.641-22487C>T (C11orf65)	NP_001317297.1:n.641-22487C>T
NM_001351110.1:c.*38+3662C>T (C11orf65)	NP_001338039.1:n.*38+3662C>T
NM_001351834.1:c.7629+1G>A (ATM)	NP_001338763.1:n.7629+1G>A
NR_147053.2:n.2384C>T (C11orf65)
XM_005271414.4:c.*48C>T (C11orf65)	XP_005271471.1:n.*48C>T
XM_005271415.4:c.814C>T (C11orf65)	XP_005271472.1:p.His272Tyr
XM_005271562.5:c.7629+1G>A (ATM)	XP_005271619.2:n.7629+1G>A
XM_006718843.4:c.7629+1G>A (ATM)	XP_006718906.1:n.7629+1G>A
XM_006718845.2:c.3585+1G>A (ATM)	XP_006718908.1:n.3585+1G>A
XM_011542840.3:c.7629+1G>A (ATM)	XP_011541142.1:n.7629+1G>A
XM_011542842.3:c.7464+1G>A (ATM)	XP_011541144.1:n.7464+1G>A
XM_011542843.2:c.7629+1G>A (ATM)	XP_011541145.1:n.7629+1G>A
XM_011542844.3:c.6585+1G>A (ATM)	XP_011541146.1:n.6585+1G>A
XM_011542845.2:c.6321+1G>A (ATM)	XP_011541147.1:n.6321+1G>A
XM_017017789.2:c.7629+1G>A (ATM)	XP_016873278.1:n.7629+1G>A
XM_017017790.2:c.7629+1G>A (ATM)	XP_016873279.1:n.7629+1G>A
NM_001330368.2:c.641-22487C>T (C11orf65)	NP_001317297.1:n.641-22487C>T
NM_001351110.2:c.*38+3662C>T (C11orf65)	NP_001338039.1:n.*38+3662C>T
NM_001351834.2:c.7629+1G>A (ATM)	NP_001338763.1:n.7629+1G>A
NM_000051.4:c.7629+1G>A (ATM) MANE Select	NP_000042.3:n.7629+1G>A
NR_147053.3:n.2382C>T (C11orf65)