Canonical Allele Identifier: CA658797748

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 524412
• ClinVar RCV Id: RCV000628183
• dbSNP Id: rs1555152058
• MyVariant Identifiers: chr11:g.108236209_108236210del (hg19) ; chr11:g.108365482_108365483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365482_108365483del , CM000673.2:g.108365482_108365483del	GRCh38
NC_000011.9:g.108236209_108236210del , CM000673.1:g.108236209_108236210del	GRCh37
NC_000011.8:g.107741419_107741420del	NCBI36
NG_009830.1:g.147651_147652del , LRG_135:g.147651_147652del
NG_054724.1:g.109352_109353del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.9145_9146del (ATM)	ENSP00000388058.2:p.Phe3049ProfsTer13
ENST00000713593.1:c.*8616_*8617del (ATM)	ENSP00000518889.1:n.*8616_*8617del
ENST00000278616.9:c.9145_9146del (ATM)	ENSP00000278616.4:p.Phe3049ProfsTer13
ENST00000638786.2:n.1843_1844del (ATM)
ENST00000682286.1:n.3902_3903del (ATM)
ENST00000682302.1:n.3563_3564del (ATM)
ENST00000682569.1:n.2492_2493del (ATM)
ENST00000683174.1:n.10629_10630del (ATM)
ENST00000683524.1:n.4369_4370del (ATM)
ENST00000684152.1:n.4561_4562del (ATM)
ENST00000684180.1:n.1619_1620del (ATM)
ENST00000684447.1:n.5638_5639del (ATM)
ENST00000527805.6:c.*4209_*4210del (ATM)	ENSP00000435747.2:n.*4209_*4210del
ENST00000675595.1:c.*4280_*4281del (ATM)	ENSP00000502563.1:n.*4280_*4281del
ENST00000675843.1:c.9145_9146del (ATM) MANE Select	ENSP00000501606.1:p.Phe3049ProfsTer13
ENST00000278616.8:c.9145_9146del (ATM)	ENSP00000278616.4:p.Phe3049ProfsTer13
ENST00000452508.6:c.9145_9146del (ATM)	ENSP00000388058.2:p.Phe3049ProfsTer13
ENST00000524755.5:c.226+27727_226+27728del (C11orf65)
ENST00000524792.5:n.5360_5361del (ATM)
ENST00000525178.5:n.633_634del (ATM)
ENST00000525729.5:c.640+20439_640+20440del (C11orf65)	ENSP00000433395.1:n.640+20439_640+20440del
ENST00000526725.1:n.272-25117_272-25116del (C11orf65)
ENST00000527181.1:n.484_485del (ATM)
ENST00000527531.5:c.*2-9372_*2-9371del (C11orf65)	ENSP00000431706.1:n.*2-9372_*2-9371del
ENST00000615746.4:c.*2-9372_*2-9371del (C11orf65)	ENSP00000483537.1:n.*2-9372_*2-9371del
NM_000051.3:c.9145_9146del , LRG_135t1:c.9145_9146del (ATM)	NP_000042.3:p.Phe3049ProfsTer13
XM_005271414.3:c.787+20439_787+20440del (C11orf65)	XP_005271471.1:n.787+20439_787+20440del
XM_005271415.3:c.731+27727_731+27728del (C11orf65)	XP_005271472.1:n.731+27727_731+27728del
XM_005271561.3:c.9145_9146del (ATM)	XP_005271618.2:p.Phe3049ProfsTer13
XM_005271562.3:c.9145_9146del (ATM)	XP_005271619.2:p.Phe3049ProfsTer13
XM_006718843.2:c.9145_9146del (ATM)	XP_006718906.1:p.Phe3049ProfsTer13
XM_006718845.1:c.5101_5102del (ATM)	XP_006718908.1:p.Phe1701ProfsTer13
XM_011542640.1:c.787+20439_787+20440del (C11orf65)	XP_011540942.1:n.787+20439_787+20440del
XM_011542642.1:c.732-16408_732-16407del (C11orf65)	XP_011540944.1:n.732-16408_732-16407del
XM_011542643.1:c.732-25117_732-25116del (C11orf65)	XP_011540945.1:n.732-25117_732-25116del
XM_011542840.1:c.9145_9146del (ATM)	XP_011541142.1:p.Phe3049ProfsTer13
XM_011542841.1:c.9145_9146del (ATM)	XP_011541143.1:p.Phe3049ProfsTer13
XM_011542842.1:c.8980_8981del (ATM)	XP_011541144.1:p.Phe2994ProfsTer13
XM_011542844.1:c.8101_8102del (ATM)	XP_011541146.1:p.Phe2701ProfsTer13
XM_011542845.1:c.7837_7838del (ATM)	XP_011541147.1:p.Phe2613ProfsTer13
XM_011542847.1:c.4216_4217del (ATM)	XP_011541149.1:p.Phe1406ProfsTer13
NM_001330368.1:c.640+20439_640+20440del (C11orf65)	NP_001317297.1:n.640+20439_640+20440del
NM_001351110.1:c.694+20439_694+20440del (C11orf65)	NP_001338039.1:n.694+20439_694+20440del
NM_001351834.1:c.9145_9146del (ATM)	NP_001338763.1:p.Phe3049ProfsTer13
NR_147053.2:n.1107-9372_1107-9371del (C11orf65)
XM_005271414.4:c.787+20439_787+20440del (C11orf65)	XP_005271471.1:n.787+20439_787+20440del
XM_005271415.4:c.731+27727_731+27728del (C11orf65)	XP_005271472.1:n.731+27727_731+27728del
XM_005271562.5:c.9145_9146del (ATM)	XP_005271619.2:p.Phe3049ProfsTer13
XM_006718843.4:c.9145_9146del (ATM)	XP_006718906.1:p.Phe3049ProfsTer13
XM_006718845.2:c.5101_5102del (ATM)	XP_006718908.1:p.Phe1701ProfsTer13
XM_011542640.2:c.787+20439_787+20440del (C11orf65)	XP_011540942.1:n.787+20439_787+20440del
XM_011542643.2:c.732-25117_732-25116del (C11orf65)	XP_011540945.1:n.732-25117_732-25116del
XM_011542840.3:c.9145_9146del (ATM)	XP_011541142.1:p.Phe3049ProfsTer13
XM_011542842.3:c.8980_8981del (ATM)	XP_011541144.1:p.Phe2994ProfsTer13
XM_011542844.3:c.8101_8102del (ATM)	XP_011541146.1:p.Phe2701ProfsTer13
XM_011542845.2:c.7837_7838del (ATM)	XP_011541147.1:p.Phe2613ProfsTer13
XM_017017247.1:c.903+17579_903+17580del (C11orf65)	XP_016872736.1:n.903+17579_903+17580del
XM_017017789.2:c.9145_9146del (ATM)	XP_016873278.1:p.Phe3049ProfsTer13
XM_017017790.2:c.9145_9146del (ATM)	XP_016873279.1:p.Phe3049ProfsTer13
NM_001330368.2:c.640+20439_640+20440del (C11orf65)	NP_001317297.1:n.640+20439_640+20440del
NM_001351110.2:c.694+20439_694+20440del (C11orf65)	NP_001338039.1:n.694+20439_694+20440del
NM_001351834.2:c.9145_9146del (ATM)	NP_001338763.1:p.Phe3049ProfsTer13
NM_000051.4:c.9145_9146del (ATM) MANE Select	NP_000042.3:p.Phe3049ProfsTer13
NR_147053.3:n.1105-9372_1105-9371del (C11orf65)