Canonical Allele Identifier: CA211317

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3030
• ClinVar RCV Id: RCV000132184 ; RCV000202436 ; RCV000679143 ; RCV003333722
• dbSNP Id: rs267606668
• MyVariant Identifiers: chr11:g.108203575_108203576delinsGC (hg19) ; chr11:g.108332848_108332849delinsGC (hg38)
• PubMed: PMID:364941 ; PMID:642007 ; PMID:9521587 ; PMID:10817650 ; PMID:10873394 ; PMID:10980530 ; PMID:15054841 ; PMID:22213089 ; PMID:23566627 ; PMID:25037873 ; PMID:25122203 ; PMID:26635394

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332848_108332849delinsGC , CM000673.2:g.108332848_108332849delinsGC	GRCh38
NC_000011.9:g.108203575_108203576delinsGC , CM000673.1:g.108203575_108203576delinsGC	GRCh37
NC_000011.8:g.107708785_107708786delinsGC	NCBI36
NG_009830.1:g.115017_115018delinsGC , LRG_135:g.115017_115018delinsGC
NG_054724.1:g.141984_141985delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7875_7876delinsGC (ATM)	ENSP00000388058.2:p.Asp2625_Ala2626delinsGluPro
ENST00000713593.1:c.*7346_*7347delinsGC (ATM)	ENSP00000518889.1:n.*7346_*7347delinsGC
ENST00000278616.9:c.7875_7876delinsGC (ATM)	ENSP00000278616.4:p.Asp2625_Ala2626delinsGluPro
ENST00000525056.2:n.2294_2295delinsGC (ATM)
ENST00000525537.3:n.1556_1557delinsGC (ATM)
ENST00000638786.2:n.625+811_625+812delinsGC (ATM)
ENST00000682286.1:n.2632_2633delinsGC (ATM)
ENST00000682302.1:n.2293_2294delinsGC (ATM)
ENST00000683174.1:n.9359_9360delinsGC (ATM)
ENST00000683524.1:n.3099_3100delinsGC (ATM)
ENST00000684152.1:n.3344-1038_3344-1037delinsGC (ATM)
ENST00000684180.1:n.349_350delinsGC (ATM)
ENST00000684447.1:n.3383_3384delinsGC (ATM)
ENST00000527805.6:c.*2939_*2940delinsGC (ATM)	ENSP00000435747.2:n.*2939_*2940delinsGC
ENST00000675595.1:c.*3010_*3011delinsGC (ATM)	ENSP00000502563.1:n.*3010_*3011delinsGC
ENST00000675843.1:c.7875_7876delinsGC (ATM) MANE Select	ENSP00000501606.1:p.Asp2625_Ala2626delinsGluPro
ENST00000278616.8:c.7875_7876delinsGC (ATM)	ENSP00000278616.4:p.Asp2625_Ala2626delinsGluPro
ENST00000452508.6:c.7875_7876delinsGC (ATM)	ENSP00000388058.2:p.Asp2625_Ala2626delinsGluPro
ENST00000524755.5:c.300-1282_300-1281delinsGC (C11orf65)
ENST00000524792.5:n.4090_4091delinsGC (ATM)
ENST00000525056.1:n.72_73delinsGC (ATM)
ENST00000525729.5:c.641-23778_641-23777delinsGC (C11orf65)	ENSP00000433395.1:n.641-23778_641-23777delinsGC
ENST00000527531.5:c.*1270-1282_*1270-1281delinsGC (C11orf65)	ENSP00000431706.1:n.*1270-1282_*1270-1281delinsGC
ENST00000533690.5:n.3279_3280delinsGC (ATM)
ENST00000533979.5:n.87_88delinsGC (ATM)
ENST00000615746.4:c.*1270-1282_*1270-1281delinsGC (C11orf65)	ENSP00000483537.1:n.*1270-1282_*1270-1281delinsGC
NM_000051.3:c.7875_7876delinsGC , LRG_135t1:c.7875_7876delinsGC (ATM)	NP_000042.3:p.Asp2625_Ala2626delinsGluPro
XM_005271414.3:c.*39-1282_*39-1281delinsGC (C11orf65)	XP_005271471.1:n.*39-1282_*39-1281delinsGC
XM_005271415.3:c.805-1282_805-1281delinsGC (C11orf65)	XP_005271472.1:n.805-1282_805-1281delinsGC
XM_005271561.3:c.7875_7876delinsGC (ATM)	XP_005271618.2:p.Asp2625_Ala2626delinsGluPro
XM_005271562.3:c.7875_7876delinsGC (ATM)	XP_005271619.2:p.Asp2625_Ala2626delinsGluPro
XM_006718843.2:c.7875_7876delinsGC (ATM)	XP_006718906.1:p.Asp2625_Ala2626delinsGluPro
XM_006718845.1:c.3831_3832delinsGC (ATM)	XP_006718908.1:p.Asp1277_Ala1278delinsGluPro
XM_011542840.1:c.7875_7876delinsGC (ATM)	XP_011541142.1:p.Asp2625_Ala2626delinsGluPro
XM_011542841.1:c.7875_7876delinsGC (ATM)	XP_011541143.1:p.Asp2625_Ala2626delinsGluPro
XM_011542842.1:c.7710_7711delinsGC (ATM)	XP_011541144.1:p.Asp2570_Ala2571delinsGluPro
XM_011542843.1:c.7875_7876delinsGC (ATM)	XP_011541145.1:p.Asp2625_Ala2626delinsGluPro
XM_011542844.1:c.6831_6832delinsGC (ATM)	XP_011541146.1:p.Asp2277_Ala2278delinsGluPro
XM_011542845.1:c.6567_6568delinsGC (ATM)	XP_011541147.1:p.Asp2189_Ala2190delinsGluPro
XM_011542847.1:c.2946_2947delinsGC (ATM)	XP_011541149.1:p.Asp982_Ala983delinsGluPro
NM_001330368.1:c.641-23778_641-23777delinsGC (C11orf65)	NP_001317297.1:n.641-23778_641-23777delinsGC
NM_001351110.1:c.*38+2371_*38+2372delinsGC (C11orf65)	NP_001338039.1:n.*38+2371_*38+2372delinsGC
NM_001351834.1:c.7875_7876delinsGC (ATM)	NP_001338763.1:p.Asp2625_Ala2626delinsGluPro
NR_147053.2:n.2375-1282_2375-1281delinsGC (C11orf65)
XM_005271414.4:c.*39-1282_*39-1281delinsGC (C11orf65)	XP_005271471.1:n.*39-1282_*39-1281delinsGC
XM_005271415.4:c.805-1282_805-1281delinsGC (C11orf65)	XP_005271472.1:n.805-1282_805-1281delinsGC
XM_005271562.5:c.7875_7876delinsGC (ATM)	XP_005271619.2:p.Asp2625_Ala2626delinsGluPro
XM_006718843.4:c.7875_7876delinsGC (ATM)	XP_006718906.1:p.Asp2625_Ala2626delinsGluPro
XM_006718845.2:c.3831_3832delinsGC (ATM)	XP_006718908.1:p.Asp1277_Ala1278delinsGluPro
XM_011542840.3:c.7875_7876delinsGC (ATM)	XP_011541142.1:p.Asp2625_Ala2626delinsGluPro
XM_011542842.3:c.7710_7711delinsGC (ATM)	XP_011541144.1:p.Asp2570_Ala2571delinsGluPro
XM_011542843.2:c.7875_7876delinsGC (ATM)	XP_011541145.1:p.Asp2625_Ala2626delinsGluPro
XM_011542844.3:c.6831_6832delinsGC (ATM)	XP_011541146.1:p.Asp2277_Ala2278delinsGluPro
XM_011542845.2:c.6567_6568delinsGC (ATM)	XP_011541147.1:p.Asp2189_Ala2190delinsGluPro
XM_017017789.2:c.7875_7876delinsGC (ATM)	XP_016873278.1:p.Asp2625_Ala2626delinsGluPro
XM_017017790.2:c.7875_7876delinsGC (ATM)	XP_016873279.1:p.Asp2625_Ala2626delinsGluPro
NM_001330368.2:c.641-23778_641-23777delinsGC (C11orf65)	NP_001317297.1:n.641-23778_641-23777delinsGC
NM_001351110.2:c.*38+2371_*38+2372delinsGC (C11orf65)	NP_001338039.1:n.*38+2371_*38+2372delinsGC
NM_001351834.2:c.7875_7876delinsGC (ATM)	NP_001338763.1:p.Asp2625_Ala2626delinsGluPro
NM_000051.4:c.7875_7876delinsGC (ATM) MANE Select	NP_000042.3:p.Asp2625_Ala2626delinsGluPro
NR_147053.3:n.2373-1282_2373-1281delinsGC (C11orf65)