Canonical Allele Identifier: CA16619232

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 420765
• ClinVar RCV Id: RCV000482167
• dbSNP Id: rs1064794690
• MyVariant Identifiers: chr11:g.108201024_108201045del (hg19) ; chr11:g.108330297_108330318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330297_108330318del , CM000673.2:g.108330297_108330318del	GRCh38
NC_000011.9:g.108201024_108201045del , CM000673.1:g.108201024_108201045del	GRCh37
NC_000011.8:g.107706234_107706255del	NCBI36
NG_009830.1:g.112466_112487del , LRG_135:g.112466_112487del
NG_054724.1:g.144518_144539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7391_7412del (ATM)	ENSP00000388058.2:p.Cys2464SerfsTer5
ENST00000713593.1:c.*6862_*6883del (ATM)	ENSP00000518889.1:n.*6862_*6883del
ENST00000278616.9:c.7391_7412del (ATM)	ENSP00000278616.4:p.Cys2464SerfsTer5
ENST00000525056.2:n.1810_1831del (ATM)
ENST00000525537.3:n.348_369del (ATM)
ENST00000638786.2:n.228_249del (ATM)
ENST00000682286.1:n.2148_2169del (ATM)
ENST00000682302.1:n.1809_1830del (ATM)
ENST00000683174.1:n.8875_8896del (ATM)
ENST00000683524.1:n.2615_2636del (ATM)
ENST00000684152.1:n.3105_3126del (ATM)
ENST00000684447.1:n.1854_1875del (ATM)
ENST00000527805.6:c.*2455_*2476del (ATM)	ENSP00000435747.2:n.*2455_*2476del
ENST00000675595.1:c.*2526_*2547del (ATM)	ENSP00000502563.1:n.*2526_*2547del
ENST00000675843.1:c.7391_7412del (ATM) MANE Select	ENSP00000501606.1:p.Cys2464SerfsTer5
ENST00000278616.8:c.7391_7412del (ATM)	ENSP00000278616.4:p.Cys2464SerfsTer5
ENST00000452508.6:c.7391_7412del (ATM)	ENSP00000388058.2:p.Cys2464SerfsTer5
ENST00000524792.5:n.3606_3627del (ATM)
ENST00000525729.5:c.641-21244_641-21223del (C11orf65)	ENSP00000433395.1:n.641-21244_641-21223de...
ENST00000533690.5:n.2795_2816del (ATM)
NM_000051.3:c.7391_7412del , LRG_135t1:c.7391_7412del (ATM)	NP_000042.3:p.Cys2464SerfsTer5
XM_005271561.3:c.7391_7412del (ATM)	XP_005271618.2:p.Cys2464SerfsTer5
XM_005271562.3:c.7391_7412del (ATM)	XP_005271619.2:p.Cys2464SerfsTer5
XM_006718843.2:c.7391_7412del (ATM)	XP_006718906.1:p.Cys2464SerfsTer5
XM_006718845.1:c.3347_3368del (ATM)	XP_006718908.1:p.Cys1116SerfsTer5
XM_011542840.1:c.7391_7412del (ATM)	XP_011541142.1:p.Cys2464SerfsTer5
XM_011542841.1:c.7391_7412del (ATM)	XP_011541143.1:p.Cys2464SerfsTer5
XM_011542842.1:c.7226_7247del (ATM)	XP_011541144.1:p.Cys2409SerfsTer5
XM_011542843.1:c.7391_7412del (ATM)	XP_011541145.1:p.Cys2464SerfsTer5
XM_011542844.1:c.6347_6368del (ATM)	XP_011541146.1:p.Cys2116SerfsTer5
XM_011542845.1:c.6083_6104del (ATM)	XP_011541147.1:p.Cys2028SerfsTer5
XM_011542847.1:c.2462_2483del (ATM)	XP_011541149.1:p.Cys821SerfsTer5
NM_001330368.1:c.641-21244_641-21223del (C11orf65)	NP_001317297.1:n.641-21244_641-21223del
NM_001351110.1:c.*38+4905_*38+4926del (C11orf65)	NP_001338039.1:n.*38+4905_*38+4926del
NM_001351834.1:c.7391_7412del (ATM)	NP_001338763.1:p.Cys2464SerfsTer5
XM_005271562.5:c.7391_7412del (ATM)	XP_005271619.2:p.Cys2464SerfsTer5
XM_006718843.4:c.7391_7412del (ATM)	XP_006718906.1:p.Cys2464SerfsTer5
XM_006718845.2:c.3347_3368del (ATM)	XP_006718908.1:p.Cys1116SerfsTer5
XM_011542840.3:c.7391_7412del (ATM)	XP_011541142.1:p.Cys2464SerfsTer5
XM_011542842.3:c.7226_7247del (ATM)	XP_011541144.1:p.Cys2409SerfsTer5
XM_011542843.2:c.7391_7412del (ATM)	XP_011541145.1:p.Cys2464SerfsTer5
XM_011542844.3:c.6347_6368del (ATM)	XP_011541146.1:p.Cys2116SerfsTer5
XM_011542845.2:c.6083_6104del (ATM)	XP_011541147.1:p.Cys2028SerfsTer5
XM_017017789.2:c.7391_7412del (ATM)	XP_016873278.1:p.Cys2464SerfsTer5
XM_017017790.2:c.7391_7412del (ATM)	XP_016873279.1:p.Cys2464SerfsTer5
NM_001330368.2:c.641-21244_641-21223del (C11orf65)	NP_001317297.1:n.641-21244_641-21223del
NM_001351110.2:c.*38+4905_*38+4926del (C11orf65)	NP_001338039.1:n.*38+4905_*38+4926del
NM_001351834.2:c.7391_7412del (ATM)	NP_001338763.1:p.Cys2464SerfsTer5
NM_000051.4:c.7391_7412del (ATM) MANE Select	NP_000042.3:p.Cys2464SerfsTer5