Canonical Allele Identifier: CA915948311

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 827424
• ClinVar RCV Id: RCV001027117 ; RCV001057885 ; RCV003455139
• dbSNP Id: rs1591191412

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335010_108335013del , CM000673.2:g.108335010_108335013del	GRCh38
NC_000011.9:g.108205737_108205740del , CM000673.1:g.108205737_108205740del	GRCh37
NC_000011.8:g.107710947_107710950del	NCBI36
NG_009830.1:g.117179_117182del , LRG_135:g.117179_117182del
NG_054724.1:g.139822_139825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8052_8055del (ATM)	ENSP00000388058.2:p.Gln2684HisfsTer8
ENST00000713593.1:c.*7523_*7526del (ATM)	ENSP00000518889.1:n.*7523_*7526del
ENST00000278616.9:c.8052_8055del (ATM)	ENSP00000278616.4:p.Gln2684HisfsTer8
ENST00000525056.2:n.2471_2474del (ATM)
ENST00000638786.2:n.750_753del (ATM)
ENST00000682286.1:n.2809_2812del (ATM)
ENST00000682302.1:n.2470_2473del (ATM)
ENST00000683174.1:n.9536_9539del (ATM)
ENST00000683524.1:n.3276_3279del (ATM)
ENST00000684152.1:n.3468_3471del (ATM)
ENST00000684180.1:n.526_529del (ATM)
ENST00000684447.1:n.4545_4548del (ATM)
ENST00000527805.6:c.*3116_*3119del (ATM)	ENSP00000435747.2:n.*3116_*3119del
ENST00000675595.1:c.*3187_*3190del (ATM)	ENSP00000502563.1:n.*3187_*3190del
ENST00000675843.1:c.8052_8055del (ATM) MANE Select	ENSP00000501606.1:p.Gln2684HisfsTer8
ENST00000278616.8:c.8052_8055del (ATM)	ENSP00000278616.4:p.Gln2684HisfsTer8
ENST00000452508.6:c.8052_8055del (ATM)	ENSP00000388058.2:p.Gln2684HisfsTer8
ENST00000524755.5:c.299+209_299+212del (C11orf65)
ENST00000524792.5:n.4267_4270del (ATM)
ENST00000525056.1:n.249_252del (ATM)
ENST00000525729.5:c.641-25940_641-25937del (C11orf65)	ENSP00000433395.1:n.641-25940_641-25937del
ENST00000527531.5:c.*1269+209_*1269+212del (C11orf65)	ENSP00000431706.1:n.*1269+209_*1269+212del
ENST00000533979.5:n.264_267del (ATM)
ENST00000615746.4:c.*1269+209_*1269+212del (C11orf65)	ENSP00000483537.1:n.*1269+209_*1269+212del
NM_000051.3:c.8052_8055del , LRG_135t1:c.8052_8055del (ATM)	NP_000042.3:p.Gln2684HisfsTer8
XM_005271414.3:c.*38+209_*38+212del (C11orf65)	XP_005271471.1:n.*38+209_*38+212del
XM_005271415.3:c.804+209_804+212del (C11orf65)	XP_005271472.1:n.804+209_804+212del
XM_005271561.3:c.8052_8055del (ATM)	XP_005271618.2:p.Gln2684HisfsTer8
XM_005271562.3:c.8052_8055del (ATM)	XP_005271619.2:p.Gln2684HisfsTer8
XM_006718843.2:c.8052_8055del (ATM)	XP_006718906.1:p.Gln2684HisfsTer8
XM_006718845.1:c.4008_4011del (ATM)	XP_006718908.1:p.Gln1336HisfsTer8
XM_011542840.1:c.8052_8055del (ATM)	XP_011541142.1:p.Gln2684HisfsTer8
XM_011542841.1:c.8052_8055del (ATM)	XP_011541143.1:p.Gln2684HisfsTer8
XM_011542842.1:c.7887_7890del (ATM)	XP_011541144.1:p.Gln2629HisfsTer8
XM_011542843.1:c.8052_8055del (ATM)	XP_011541145.1:p.Gln2684HisfsTer8
XM_011542844.1:c.7008_7011del (ATM)	XP_011541146.1:p.Gln2336HisfsTer8
XM_011542845.1:c.6744_6747del (ATM)	XP_011541147.1:p.Gln2248HisfsTer8
XM_011542847.1:c.3123_3126del (ATM)	XP_011541149.1:p.Gln1041HisfsTer8
NM_001330368.1:c.641-25940_641-25937del (C11orf65)	NP_001317297.1:n.641-25940_641-25937del
NM_001351110.1:c.*38+209_*38+212del (C11orf65)	NP_001338039.1:n.*38+209_*38+212del
NM_001351834.1:c.8052_8055del (ATM)	NP_001338763.1:p.Gln2684HisfsTer8
NR_147053.2:n.2374+209_2374+212del (C11orf65)
XM_005271414.4:c.*38+209_*38+212del (C11orf65)	XP_005271471.1:n.*38+209_*38+212del
XM_005271415.4:c.804+209_804+212del (C11orf65)	XP_005271472.1:n.804+209_804+212del
XM_005271562.5:c.8052_8055del (ATM)	XP_005271619.2:p.Gln2684HisfsTer8
XM_006718843.4:c.8052_8055del (ATM)	XP_006718906.1:p.Gln2684HisfsTer8
XM_006718845.2:c.4008_4011del (ATM)	XP_006718908.1:p.Gln1336HisfsTer8
XM_011542840.3:c.8052_8055del (ATM)	XP_011541142.1:p.Gln2684HisfsTer8
XM_011542842.3:c.7887_7890del (ATM)	XP_011541144.1:p.Gln2629HisfsTer8
XM_011542843.2:c.8052_8055del (ATM)	XP_011541145.1:p.Gln2684HisfsTer8
XM_011542844.3:c.7008_7011del (ATM)	XP_011541146.1:p.Gln2336HisfsTer8
XM_011542845.2:c.6744_6747del (ATM)	XP_011541147.1:p.Gln2248HisfsTer8
XM_017017789.2:c.8052_8055del (ATM)	XP_016873278.1:p.Gln2684HisfsTer8
XM_017017790.2:c.8052_8055del (ATM)	XP_016873279.1:p.Gln2684HisfsTer8
NM_001330368.2:c.641-25940_641-25937del (C11orf65)	NP_001317297.1:n.641-25940_641-25937del
NM_001351110.2:c.*38+209_*38+212del (C11orf65)	NP_001338039.1:n.*38+209_*38+212del
NM_001351834.2:c.8052_8055del (ATM)	NP_001338763.1:p.Gln2684HisfsTer8
NM_000051.4:c.8052_8055del (ATM) MANE Select	NP_000042.3:p.Gln2684HisfsTer8
NR_147053.3:n.2372+209_2372+212del (C11orf65)