Canonical Allele Identifier: CA671418060

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1433938026
• gnomAD v3: 11-108331891-AT-A
• gnomAD v4: 11-108331891-AT-A
• MyVariant Identifiers: chr11:g.108202619del (hg19) ; chr11:g.108331892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331894del , CM000673.2:g.108331894del	GRCh38
NC_000011.9:g.108202621del , CM000673.1:g.108202621del	GRCh37
NC_000011.8:g.107707831del	NCBI36
NG_009830.1:g.114063del , LRG_135:g.114063del
NG_054724.1:g.142941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7645del (ATM)	ENSP00000388058.2:p.Ser2549GlnfsTer15
ENST00000713593.1:c.*7116del (ATM)	ENSP00000518889.1:n.*7116del
ENST00000278616.9:c.7645del (ATM)	ENSP00000278616.4:p.Ser2549GlnfsTer15
ENST00000525056.2:n.2064del (ATM)
ENST00000525537.3:n.602del (ATM)
ENST00000638786.2:n.482del (ATM)
ENST00000682286.1:n.2402del (ATM)
ENST00000682302.1:n.2063del (ATM)
ENST00000683174.1:n.9129del (ATM)
ENST00000683524.1:n.2869del (ATM)
ENST00000684152.1:n.3343+337del (ATM)
ENST00000684447.1:n.2429del (ATM)
ENST00000527805.6:c.*2709del (ATM)	ENSP00000435747.2:n.*2709del
ENST00000675595.1:c.*2780del (ATM)	ENSP00000502563.1:n.*2780del
ENST00000675843.1:c.7645del (ATM) MANE Select	ENSP00000501606.1:p.Ser2549GlnfsTer15
ENST00000278616.8:c.7645del (ATM)	ENSP00000278616.4:p.Ser2549GlnfsTer15
ENST00000452508.6:c.7645del (ATM)	ENSP00000388058.2:p.Ser2549GlnfsTer15
ENST00000524755.5:c.300-325del (C11orf65)
ENST00000524792.5:n.3860del (ATM)
ENST00000525729.5:c.641-22821del (C11orf65)	ENSP00000433395.1:n.641-22821del
ENST00000527531.5:c.*1270-325del (C11orf65)	ENSP00000431706.1:n.*1270-325del
ENST00000533690.5:n.3049del (ATM)
ENST00000615746.4:c.*1270-325del (C11orf65)	ENSP00000483537.1:n.*1270-325del
NM_000051.3:c.7645del , LRG_135t1:c.7645del (ATM)	NP_000042.3:p.Ser2549GlnfsTer15
XM_005271414.3:c.*39-325del (C11orf65)	XP_005271471.1:n.*39-325del
XM_005271415.3:c.805-325del (C11orf65)	XP_005271472.1:n.805-325del
XM_005271561.3:c.7645del (ATM)	XP_005271618.2:p.Ser2549GlnfsTer15
XM_005271562.3:c.7645del (ATM)	XP_005271619.2:p.Ser2549GlnfsTer15
XM_006718843.2:c.7645del (ATM)	XP_006718906.1:p.Ser2549GlnfsTer15
XM_006718845.1:c.3601del (ATM)	XP_006718908.1:p.Ser1201GlnfsTer15
XM_011542840.1:c.7645del (ATM)	XP_011541142.1:p.Ser2549GlnfsTer15
XM_011542841.1:c.7645del (ATM)	XP_011541143.1:p.Ser2549GlnfsTer15
XM_011542842.1:c.7480del (ATM)	XP_011541144.1:p.Ser2494GlnfsTer15
XM_011542843.1:c.7645del (ATM)	XP_011541145.1:p.Ser2549GlnfsTer15
XM_011542844.1:c.6601del (ATM)	XP_011541146.1:p.Ser2201GlnfsTer15
XM_011542845.1:c.6337del (ATM)	XP_011541147.1:p.Ser2113GlnfsTer15
XM_011542847.1:c.2716del (ATM)	XP_011541149.1:p.Ser906GlnfsTer15
NM_001330368.1:c.641-22821del (C11orf65)	NP_001317297.1:n.641-22821del
NM_001351110.1:c.*38+3328del (C11orf65)	NP_001338039.1:n.*38+3328del
NM_001351834.1:c.7645del (ATM)	NP_001338763.1:p.Ser2549GlnfsTer15
NR_147053.2:n.2375-325del (C11orf65)
XM_005271414.4:c.*39-325del (C11orf65)	XP_005271471.1:n.*39-325del
XM_005271415.4:c.805-325del (C11orf65)	XP_005271472.1:n.805-325del
XM_005271562.5:c.7645del (ATM)	XP_005271619.2:p.Ser2549GlnfsTer15
XM_006718843.4:c.7645del (ATM)	XP_006718906.1:p.Ser2549GlnfsTer15
XM_006718845.2:c.3601del (ATM)	XP_006718908.1:p.Ser1201GlnfsTer15
XM_011542840.3:c.7645del (ATM)	XP_011541142.1:p.Ser2549GlnfsTer15
XM_011542842.3:c.7480del (ATM)	XP_011541144.1:p.Ser2494GlnfsTer15
XM_011542843.2:c.7645del (ATM)	XP_011541145.1:p.Ser2549GlnfsTer15
XM_011542844.3:c.6601del (ATM)	XP_011541146.1:p.Ser2201GlnfsTer15
XM_011542845.2:c.6337del (ATM)	XP_011541147.1:p.Ser2113GlnfsTer15
XM_017017789.2:c.7645del (ATM)	XP_016873278.1:p.Ser2549GlnfsTer15
XM_017017790.2:c.7645del (ATM)	XP_016873279.1:p.Ser2549GlnfsTer15
NM_001330368.2:c.641-22821del (C11orf65)	NP_001317297.1:n.641-22821del
NM_001351110.2:c.*38+3328del (C11orf65)	NP_001338039.1:n.*38+3328del
NM_001351834.2:c.7645del (ATM)	NP_001338763.1:p.Ser2549GlnfsTer15
NM_000051.4:c.7645del (ATM) MANE Select	NP_000042.3:p.Ser2549GlnfsTer15
NR_147053.3:n.2373-325del (C11orf65)