Canonical Allele Identifier: CA1998816230

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343589_108343594delinsTGTAAA , CM000673.2:g.108343589_108343594delinsTGTAAA	GRCh38
NC_000011.9:g.108214316_108214321delinsTGTAAA , CM000673.1:g.108214316_108214321delinsTGTAAA	GRCh37
NC_000011.8:g.107719526_107719531delinsTGTAAA	NCBI36
NG_009830.1:g.125758_125763delinsTGTAAA , LRG_135:g.125758_125763delinsTGTAAA
NG_054724.1:g.131239_131244delinsTTTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8418+218_8418+223delinsTGTAAA (ATM)	ENSP00000388058.2:n.8418+218_8418+223delinsTGTAAA
ENST00000713593.1:c.*7889+218_*7889+223delinsTGTAAA (ATM)	ENSP00000518889.1:n.*7889+218_*7889+223delinsTGTAAA
ENST00000278616.9:c.8418+218_8418+223delinsTGTAAA (ATM)	ENSP00000278616.4:n.8418+218_8418+223delinsTGTAAA
ENST00000638786.2:n.1116+218_1116+223delinsTGTAAA (ATM)
ENST00000682286.1:n.3175+218_3175+223delinsTGTAAA (ATM)
ENST00000682302.1:n.2836+218_2836+223delinsTGTAAA (ATM)
ENST00000683174.1:n.9902+218_9902+223delinsTGTAAA (ATM)
ENST00000683524.1:n.3642+218_3642+223delinsTGTAAA (ATM)
ENST00000684152.1:n.3834+218_3834+223delinsTGTAAA (ATM)
ENST00000684180.1:n.892+218_892+223delinsTGTAAA (ATM)
ENST00000684447.1:n.4911+218_4911+223delinsTGTAAA (ATM)
ENST00000527805.6:c.*3482+218_*3482+223delinsTGTAAA (ATM)	ENSP00000435747.2:n.*3482+218_*3482+223delinsTGTAAA
ENST00000675595.1:c.*3553+218_*3553+223delinsTGTAAA (ATM)	ENSP00000502563.1:n.*3553+218_*3553+223delinsTGTAAA
ENST00000675843.1:c.8418+218_8418+223delinsTGTAAA (ATM) MANE Select	ENSP00000501606.1:n.8418+218_8418+223delinsTGTAAA
ENST00000278616.8:c.8418+218_8418+223delinsTGTAAA (ATM)	ENSP00000278616.4:n.8418+218_8418+223delinsTGTAAA
ENST00000452508.6:c.8418+218_8418+223delinsTGTAAA (ATM)	ENSP00000388058.2:n.8418+218_8418+223delinsTGTAAA
ENST00000524755.5:c.227-8302_227-8297delinsTTTACA (C11orf65)
ENST00000524792.5:n.4633+218_4633+223delinsTGTAAA (ATM)
ENST00000525729.5:c.641-34523_641-34518delinsTTTACA (C11orf65)	ENSP00000433395.1:n.641-34523_641-34518delinsTTTACA
ENST00000526725.1:n.272-3230_272-3225delinsTTTACA (C11orf65)
ENST00000527531.5:c.*1197-8302_*1197-8297delinsTTTACA (C11orf65)	ENSP00000431706.1:n.*1197-8302_*1197-8297delinsTTTACA
ENST00000615746.4:c.*1197-8302_*1197-8297delinsTTTACA (C11orf65)	ENSP00000483537.1:n.*1197-8302_*1197-8297delinsTTTACA
NM_000051.3:c.8418+218_8418+223delinsTGTAAA , LRG_135t1:c.8418+218_8418+223delinsTGTAAA (ATM)	NP_000042.3:n.8418+218_8418+223delinsTGTAAA
XM_005271414.3:c.788-8302_788-8297delinsTTTACA (C11orf65)	XP_005271471.1:n.788-8302_788-8297delinsTTTACA
XM_005271415.3:c.732-8302_732-8297delinsTTTACA (C11orf65)	XP_005271472.1:n.732-8302_732-8297delinsTTTACA
XM_005271561.3:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_005271618.2:n.8418+218_8418+223delinsTGTAAA
XM_005271562.3:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_005271619.2:n.8418+218_8418+223delinsTGTAAA
XM_006718843.2:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_006718906.1:n.8418+218_8418+223delinsTGTAAA
XM_006718845.1:c.4374+218_4374+223delinsTGTAAA (ATM)	XP_006718908.1:n.4374+218_4374+223delinsTGTAAA
XM_011542640.1:c.788-3230_788-3225delinsTTTACA (C11orf65)	XP_011540942.1:n.788-3230_788-3225delinsTTTACA
XM_011542643.1:c.732-3230_732-3225delinsTTTACA (C11orf65)	XP_011540945.1:n.732-3230_732-3225delinsTTTACA
XM_011542840.1:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_011541142.1:n.8418+218_8418+223delinsTGTAAA
XM_011542841.1:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_011541143.1:n.8418+218_8418+223delinsTGTAAA
XM_011542842.1:c.8253+218_8253+223delinsTGTAAA (ATM)	XP_011541144.1:n.8253+218_8253+223delinsTGTAAA
XM_011542843.1:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_011541145.1:n.8418+218_8418+223delinsTGTAAA
XM_011542844.1:c.7374+218_7374+223delinsTGTAAA (ATM)	XP_011541146.1:n.7374+218_7374+223delinsTGTAAA
XM_011542845.1:c.7110+218_7110+223delinsTGTAAA (ATM)	XP_011541147.1:n.7110+218_7110+223delinsTGTAAA
XM_011542847.1:c.3489+218_3489+223delinsTGTAAA (ATM)	XP_011541149.1:n.3489+218_3489+223delinsTGTAAA
NM_001330368.1:c.641-34523_641-34518delinsTTTACA (C11orf65)	NP_001317297.1:n.641-34523_641-34518delinsTTTACA
NM_001351110.1:c.695-8302_695-8297delinsTTTACA (C11orf65)	NP_001338039.1:n.695-8302_695-8297delinsTTTACA
NM_001351834.1:c.8418+218_8418+223delinsTGTAAA (ATM)	NP_001338763.1:n.8418+218_8418+223delinsTGTAAA
NR_147053.2:n.2302-8302_2302-8297delinsTTTACA (C11orf65)
XM_005271414.4:c.788-8302_788-8297delinsTTTACA (C11orf65)	XP_005271471.1:n.788-8302_788-8297delinsTTTACA
XM_005271415.4:c.732-8302_732-8297delinsTTTACA (C11orf65)	XP_005271472.1:n.732-8302_732-8297delinsTTTACA
XM_005271562.5:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_005271619.2:n.8418+218_8418+223delinsTGTAAA
XM_006718843.4:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_006718906.1:n.8418+218_8418+223delinsTGTAAA
XM_006718845.2:c.4374+218_4374+223delinsTGTAAA (ATM)	XP_006718908.1:n.4374+218_4374+223delinsTGTAAA
XM_011542640.2:c.788-3230_788-3225delinsTTTACA (C11orf65)	XP_011540942.1:n.788-3230_788-3225delinsTTTACA
XM_011542643.2:c.732-3230_732-3225delinsTTTACA (C11orf65)	XP_011540945.1:n.732-3230_732-3225delinsTTTACA
XM_011542840.3:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_011541142.1:n.8418+218_8418+223delinsTGTAAA
XM_011542842.3:c.8253+218_8253+223delinsTGTAAA (ATM)	XP_011541144.1:n.8253+218_8253+223delinsTGTAAA
XM_011542843.2:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_011541145.1:n.8418+218_8418+223delinsTGTAAA
XM_011542844.3:c.7374+218_7374+223delinsTGTAAA (ATM)	XP_011541146.1:n.7374+218_7374+223delinsTGTAAA
XM_011542845.2:c.7110+218_7110+223delinsTGTAAA (ATM)	XP_011541147.1:n.7110+218_7110+223delinsTGTAAA
XM_017017247.1:c.904-3230_904-3225delinsTTTACA (C11orf65)	XP_016872736.1:n.904-3230_904-3225delinsTTTACA
XM_017017789.2:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_016873278.1:n.8418+218_8418+223delinsTGTAAA
XM_017017790.2:c.8418+218_8418+223delinsTGTAAA (ATM)	XP_016873279.1:n.8418+218_8418+223delinsTGTAAA
NM_001330368.2:c.641-34523_641-34518delinsTTTACA (C11orf65)	NP_001317297.1:n.641-34523_641-34518delinsTTTACA
NM_001351110.2:c.695-8302_695-8297delinsTTTACA (C11orf65)	NP_001338039.1:n.695-8302_695-8297delinsTTTACA
NM_001351834.2:c.8418+218_8418+223delinsTGTAAA (ATM)	NP_001338763.1:n.8418+218_8418+223delinsTGTAAA
NM_000051.4:c.8418+218_8418+223delinsTGTAAA (ATM) MANE Select	NP_000042.3:n.8418+218_8418+223delinsTGTAAA
NR_147053.3:n.2300-8302_2300-8297delinsTTTACA (C11orf65)