Canonical Allele Identifier: CA2615861848

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108332016-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332017del , CM000673.2:g.108332017del	GRCh38
NC_000011.9:g.108202744del , CM000673.1:g.108202744del	GRCh37
NC_000011.8:g.107707954del	NCBI36
NG_009830.1:g.114186del , LRG_135:g.114186del
NG_054724.1:g.142816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7768del (ATM)	ENSP00000388058.2:p.Gln2590LysfsTer16
ENST00000713593.1:c.*7239del (ATM)	ENSP00000518889.1:n.*7239del
ENST00000278616.9:c.7768del (ATM)	ENSP00000278616.4:p.Gln2590LysfsTer16
ENST00000525056.2:n.2187del (ATM)
ENST00000525537.3:n.725del (ATM)
ENST00000638786.2:n.605del (ATM)
ENST00000682286.1:n.2525del (ATM)
ENST00000682302.1:n.2186del (ATM)
ENST00000683174.1:n.9252del (ATM)
ENST00000683524.1:n.2992del (ATM)
ENST00000684152.1:n.3343+460del (ATM)
ENST00000684447.1:n.2552del (ATM)
ENST00000527805.6:c.*2832del (ATM)	ENSP00000435747.2:n.*2832del
ENST00000675595.1:c.*2903del (ATM)	ENSP00000502563.1:n.*2903del
ENST00000675843.1:c.7768del (ATM) MANE Select	ENSP00000501606.1:p.Gln2590LysfsTer16
ENST00000278616.8:c.7768del (ATM)	ENSP00000278616.4:p.Gln2590LysfsTer16
ENST00000452508.6:c.7768del (ATM)	ENSP00000388058.2:p.Gln2590LysfsTer16
ENST00000524755.5:c.300-450del (C11orf65)
ENST00000524792.5:n.3983del (ATM)
ENST00000525729.5:c.641-22946del (C11orf65)	ENSP00000433395.1:n.641-22946del
ENST00000527531.5:c.*1270-450del (C11orf65)	ENSP00000431706.1:n.*1270-450del
ENST00000533690.5:n.3172del (ATM)
ENST00000615746.4:c.*1270-450del (C11orf65)	ENSP00000483537.1:n.*1270-450del
NM_000051.3:c.7768del , LRG_135t1:c.7768del (ATM)	NP_000042.3:p.Gln2590LysfsTer16
XM_005271414.3:c.*39-450del (C11orf65)	XP_005271471.1:n.*39-450del
XM_005271415.3:c.805-450del (C11orf65)	XP_005271472.1:n.805-450del
XM_005271561.3:c.7768del (ATM)	XP_005271618.2:p.Gln2590LysfsTer16
XM_005271562.3:c.7768del (ATM)	XP_005271619.2:p.Gln2590LysfsTer16
XM_006718843.2:c.7768del (ATM)	XP_006718906.1:p.Gln2590LysfsTer16
XM_006718845.1:c.3724del (ATM)	XP_006718908.1:p.Gln1242LysfsTer16
XM_011542840.1:c.7768del (ATM)	XP_011541142.1:p.Gln2590LysfsTer16
XM_011542841.1:c.7768del (ATM)	XP_011541143.1:p.Gln2590LysfsTer16
XM_011542842.1:c.7603del (ATM)	XP_011541144.1:p.Gln2535LysfsTer16
XM_011542843.1:c.7768del (ATM)	XP_011541145.1:p.Gln2590LysfsTer16
XM_011542844.1:c.6724del (ATM)	XP_011541146.1:p.Gln2242LysfsTer16
XM_011542845.1:c.6460del (ATM)	XP_011541147.1:p.Gln2154LysfsTer16
XM_011542847.1:c.2839del (ATM)	XP_011541149.1:p.Gln947LysfsTer16
NM_001330368.1:c.641-22946del (C11orf65)	NP_001317297.1:n.641-22946del
NM_001351110.1:c.*38+3203del (C11orf65)	NP_001338039.1:n.*38+3203del
NM_001351834.1:c.7768del (ATM)	NP_001338763.1:p.Gln2590LysfsTer16
NR_147053.2:n.2375-450del (C11orf65)
XM_005271414.4:c.*39-450del (C11orf65)	XP_005271471.1:n.*39-450del
XM_005271415.4:c.805-450del (C11orf65)	XP_005271472.1:n.805-450del
XM_005271562.5:c.7768del (ATM)	XP_005271619.2:p.Gln2590LysfsTer16
XM_006718843.4:c.7768del (ATM)	XP_006718906.1:p.Gln2590LysfsTer16
XM_006718845.2:c.3724del (ATM)	XP_006718908.1:p.Gln1242LysfsTer16
XM_011542840.3:c.7768del (ATM)	XP_011541142.1:p.Gln2590LysfsTer16
XM_011542842.3:c.7603del (ATM)	XP_011541144.1:p.Gln2535LysfsTer16
XM_011542843.2:c.7768del (ATM)	XP_011541145.1:p.Gln2590LysfsTer16
XM_011542844.3:c.6724del (ATM)	XP_011541146.1:p.Gln2242LysfsTer16
XM_011542845.2:c.6460del (ATM)	XP_011541147.1:p.Gln2154LysfsTer16
XM_017017789.2:c.7768del (ATM)	XP_016873278.1:p.Gln2590LysfsTer16
XM_017017790.2:c.7768del (ATM)	XP_016873279.1:p.Gln2590LysfsTer16
NM_001330368.2:c.641-22946del (C11orf65)	NP_001317297.1:n.641-22946del
NM_001351110.2:c.*38+3203del (C11orf65)	NP_001338039.1:n.*38+3203del
NM_001351834.2:c.7768del (ATM)	NP_001338763.1:p.Gln2590LysfsTer16
NM_000051.4:c.7768del (ATM) MANE Select	NP_000042.3:p.Gln2590LysfsTer16
NR_147053.3:n.2373-450del (C11orf65)