Canonical Allele Identifier: CA645598125

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 566595
• ClinVar RCV Id: RCV000686444 ; RCV001027152 ; RCV003235347
• dbSNP Id: rs1565540828
• COSMIC: COSM265665 ; COSM1585335
• MyVariant Identifiers: chr11:g.108205767_108205769del (hg19) ; chr11:g.108335040_108335042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335040_108335042del , CM000673.2:g.108335040_108335042del	GRCh38
NC_000011.9:g.108205767_108205769del , CM000673.1:g.108205767_108205769del	GRCh37
NC_000011.8:g.107710977_107710979del	NCBI36
NG_009830.1:g.117209_117211del , LRG_135:g.117209_117211del
NG_054724.1:g.139794_139796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8082_8084del (ATM)	ENSP00000388058.2:p.Gly2695del
ENST00000713593.1:c.*7553_*7555del (ATM)	ENSP00000518889.1:n.*7553_*7555del
ENST00000278616.9:c.8082_8084del (ATM)	ENSP00000278616.4:p.Gly2695del
ENST00000525056.2:n.2501_2503del (ATM)
ENST00000638786.2:n.780_782del (ATM)
ENST00000682286.1:n.2839_2841del (ATM)
ENST00000682302.1:n.2500_2502del (ATM)
ENST00000683174.1:n.9566_9568del (ATM)
ENST00000683524.1:n.3306_3308del (ATM)
ENST00000684152.1:n.3498_3500del (ATM)
ENST00000684180.1:n.556_558del (ATM)
ENST00000684447.1:n.4575_4577del (ATM)
ENST00000527805.6:c.*3146_*3148del (ATM)	ENSP00000435747.2:n.*3146_*3148del
ENST00000675595.1:c.*3217_*3219del (ATM)	ENSP00000502563.1:n.*3217_*3219del
ENST00000675843.1:c.8082_8084del (ATM) MANE Select	ENSP00000501606.1:p.Gly2695del
ENST00000278616.8:c.8082_8084del (ATM)	ENSP00000278616.4:p.Gly2695del
ENST00000452508.6:c.8082_8084del (ATM)	ENSP00000388058.2:p.Gly2695del
ENST00000524755.5:c.299+181_299+183del (C11orf65)
ENST00000524792.5:n.4297_4299del (ATM)
ENST00000525056.1:n.279_281del (ATM)
ENST00000525729.5:c.641-25968_641-25966del (C11orf65)	ENSP00000433395.1:n.641-25968_641-25966del
ENST00000527531.5:c.*1269+181_*1269+183del (C11orf65)	ENSP00000431706.1:n.*1269+181_*1269+183del
ENST00000533979.5:n.294_296del (ATM)
ENST00000615746.4:c.*1269+181_*1269+183del (C11orf65)	ENSP00000483537.1:n.*1269+181_*1269+183del
NM_000051.3:c.8082_8084del , LRG_135t1:c.8082_8084del (ATM)	NP_000042.3:p.Gly2695del
XM_005271414.3:c.*38+181_*38+183del (C11orf65)	XP_005271471.1:n.*38+181_*38+183del
XM_005271415.3:c.804+181_804+183del (C11orf65)	XP_005271472.1:n.804+181_804+183del
XM_005271561.3:c.8082_8084del (ATM)	XP_005271618.2:p.Gly2695del
XM_005271562.3:c.8082_8084del (ATM)	XP_005271619.2:p.Gly2695del
XM_006718843.2:c.8082_8084del (ATM)	XP_006718906.1:p.Gly2695del
XM_006718845.1:c.4038_4040del (ATM)	XP_006718908.1:p.Gly1347del
XM_011542840.1:c.8082_8084del (ATM)	XP_011541142.1:p.Gly2695del
XM_011542841.1:c.8082_8084del (ATM)	XP_011541143.1:p.Gly2695del
XM_011542842.1:c.7917_7919del (ATM)	XP_011541144.1:p.Gly2640del
XM_011542843.1:c.8082_8084del (ATM)	XP_011541145.1:p.Gly2695del
XM_011542844.1:c.7038_7040del (ATM)	XP_011541146.1:p.Gly2347del
XM_011542845.1:c.6774_6776del (ATM)	XP_011541147.1:p.Gly2259del
XM_011542847.1:c.3153_3155del (ATM)	XP_011541149.1:p.Gly1052del
NM_001330368.1:c.641-25968_641-25966del (C11orf65)	NP_001317297.1:n.641-25968_641-25966del
NM_001351110.1:c.*38+181_*38+183del (C11orf65)	NP_001338039.1:n.*38+181_*38+183del
NM_001351834.1:c.8082_8084del (ATM)	NP_001338763.1:p.Gly2695del
NR_147053.2:n.2374+181_2374+183del (C11orf65)
XM_005271414.4:c.*38+181_*38+183del (C11orf65)	XP_005271471.1:n.*38+181_*38+183del
XM_005271415.4:c.804+181_804+183del (C11orf65)	XP_005271472.1:n.804+181_804+183del
XM_005271562.5:c.8082_8084del (ATM)	XP_005271619.2:p.Gly2695del
XM_006718843.4:c.8082_8084del (ATM)	XP_006718906.1:p.Gly2695del
XM_006718845.2:c.4038_4040del (ATM)	XP_006718908.1:p.Gly1347del
XM_011542840.3:c.8082_8084del (ATM)	XP_011541142.1:p.Gly2695del
XM_011542842.3:c.7917_7919del (ATM)	XP_011541144.1:p.Gly2640del
XM_011542843.2:c.8082_8084del (ATM)	XP_011541145.1:p.Gly2695del
XM_011542844.3:c.7038_7040del (ATM)	XP_011541146.1:p.Gly2347del
XM_011542845.2:c.6774_6776del (ATM)	XP_011541147.1:p.Gly2259del
XM_017017789.2:c.8082_8084del (ATM)	XP_016873278.1:p.Gly2695del
XM_017017790.2:c.8082_8084del (ATM)	XP_016873279.1:p.Gly2695del
NM_001330368.2:c.641-25968_641-25966del (C11orf65)	NP_001317297.1:n.641-25968_641-25966del
NM_001351110.2:c.*38+181_*38+183del (C11orf65)	NP_001338039.1:n.*38+181_*38+183del
NM_001351834.2:c.8082_8084del (ATM)	NP_001338763.1:p.Gly2695del
NM_000051.4:c.8082_8084del (ATM) MANE Select	NP_000042.3:p.Gly2695del
NR_147053.3:n.2372+181_2372+183del (C11orf65)