Canonical Allele Identifier: CA1998816179

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343463_108343468delinsCTTTAA , CM000673.2:g.108343463_108343468delinsCTTTAA	GRCh38
NC_000011.9:g.108214190_108214195delinsCTTTAA , CM000673.1:g.108214190_108214195delinsCTTTAA	GRCh37
NC_000011.8:g.107719400_107719405delinsCTTTAA	NCBI36
NG_009830.1:g.125632_125637delinsCTTTAA , LRG_135:g.125632_125637delinsCTTTAA
NG_054724.1:g.131365_131370delinsTTAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8418+92_8418+97delinsCTTTAA (ATM)	ENSP00000388058.2:n.8418+92_8418+97delinsCTTTAA
ENST00000713593.1:c.*7889+92_*7889+97delinsCTTTAA (ATM)	ENSP00000518889.1:n.*7889+92_*7889+97delinsCTTTAA
ENST00000278616.9:c.8418+92_8418+97delinsCTTTAA (ATM)	ENSP00000278616.4:n.8418+92_8418+97delinsCTTTAA
ENST00000638786.2:n.1116+92_1116+97delinsCTTTAA (ATM)
ENST00000682286.1:n.3175+92_3175+97delinsCTTTAA (ATM)
ENST00000682302.1:n.2836+92_2836+97delinsCTTTAA (ATM)
ENST00000683174.1:n.9902+92_9902+97delinsCTTTAA (ATM)
ENST00000683524.1:n.3642+92_3642+97delinsCTTTAA (ATM)
ENST00000684152.1:n.3834+92_3834+97delinsCTTTAA (ATM)
ENST00000684180.1:n.892+92_892+97delinsCTTTAA (ATM)
ENST00000684447.1:n.4911+92_4911+97delinsCTTTAA (ATM)
ENST00000527805.6:c.*3482+92_*3482+97delinsCTTTAA (ATM)	ENSP00000435747.2:n.*3482+92_*3482+97delinsCTTTAA
ENST00000675595.1:c.*3553+92_*3553+97delinsCTTTAA (ATM)	ENSP00000502563.1:n.*3553+92_*3553+97delinsCTTTAA
ENST00000675843.1:c.8418+92_8418+97delinsCTTTAA (ATM) MANE Select	ENSP00000501606.1:n.8418+92_8418+97delinsCTTTAA
ENST00000278616.8:c.8418+92_8418+97delinsCTTTAA (ATM)	ENSP00000278616.4:n.8418+92_8418+97delinsCTTTAA
ENST00000452508.6:c.8418+92_8418+97delinsCTTTAA (ATM)	ENSP00000388058.2:n.8418+92_8418+97delinsCTTTAA
ENST00000524755.5:c.227-8176_227-8171delinsTTAAAG (C11orf65)
ENST00000524792.5:n.4633+92_4633+97delinsCTTTAA (ATM)
ENST00000525729.5:c.641-34397_641-34392delinsTTAAAG (C11orf65)	ENSP00000433395.1:n.641-34397_641-34392delinsTTAAAG
ENST00000526725.1:n.272-3104_272-3099delinsTTAAAG (C11orf65)
ENST00000527531.5:c.*1197-8176_*1197-8171delinsTTAAAG (C11orf65)	ENSP00000431706.1:n.*1197-8176_*1197-8171delinsTTAAAG
ENST00000615746.4:c.*1197-8176_*1197-8171delinsTTAAAG (C11orf65)	ENSP00000483537.1:n.*1197-8176_*1197-8171delinsTTAAAG
NM_000051.3:c.8418+92_8418+97delinsCTTTAA , LRG_135t1:c.8418+92_8418+97delinsCTTTAA (ATM)	NP_000042.3:n.8418+92_8418+97delinsCTTTAA
XM_005271414.3:c.788-8176_788-8171delinsTTAAAG (C11orf65)	XP_005271471.1:n.788-8176_788-8171delinsTTAAAG
XM_005271415.3:c.732-8176_732-8171delinsTTAAAG (C11orf65)	XP_005271472.1:n.732-8176_732-8171delinsTTAAAG
XM_005271561.3:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_005271618.2:n.8418+92_8418+97delinsCTTTAA
XM_005271562.3:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_005271619.2:n.8418+92_8418+97delinsCTTTAA
XM_006718843.2:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_006718906.1:n.8418+92_8418+97delinsCTTTAA
XM_006718845.1:c.4374+92_4374+97delinsCTTTAA (ATM)	XP_006718908.1:n.4374+92_4374+97delinsCTTTAA
XM_011542640.1:c.788-3104_788-3099delinsTTAAAG (C11orf65)	XP_011540942.1:n.788-3104_788-3099delinsTTAAAG
XM_011542643.1:c.732-3104_732-3099delinsTTAAAG (C11orf65)	XP_011540945.1:n.732-3104_732-3099delinsTTAAAG
XM_011542840.1:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_011541142.1:n.8418+92_8418+97delinsCTTTAA
XM_011542841.1:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_011541143.1:n.8418+92_8418+97delinsCTTTAA
XM_011542842.1:c.8253+92_8253+97delinsCTTTAA (ATM)	XP_011541144.1:n.8253+92_8253+97delinsCTTTAA
XM_011542843.1:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_011541145.1:n.8418+92_8418+97delinsCTTTAA
XM_011542844.1:c.7374+92_7374+97delinsCTTTAA (ATM)	XP_011541146.1:n.7374+92_7374+97delinsCTTTAA
XM_011542845.1:c.7110+92_7110+97delinsCTTTAA (ATM)	XP_011541147.1:n.7110+92_7110+97delinsCTTTAA
XM_011542847.1:c.3489+92_3489+97delinsCTTTAA (ATM)	XP_011541149.1:n.3489+92_3489+97delinsCTTTAA
NM_001330368.1:c.641-34397_641-34392delinsTTAAAG (C11orf65)	NP_001317297.1:n.641-34397_641-34392delinsTTAAAG
NM_001351110.1:c.695-8176_695-8171delinsTTAAAG (C11orf65)	NP_001338039.1:n.695-8176_695-8171delinsTTAAAG
NM_001351834.1:c.8418+92_8418+97delinsCTTTAA (ATM)	NP_001338763.1:n.8418+92_8418+97delinsCTTTAA
NR_147053.2:n.2302-8176_2302-8171delinsTTAAAG (C11orf65)
XM_005271414.4:c.788-8176_788-8171delinsTTAAAG (C11orf65)	XP_005271471.1:n.788-8176_788-8171delinsTTAAAG
XM_005271415.4:c.732-8176_732-8171delinsTTAAAG (C11orf65)	XP_005271472.1:n.732-8176_732-8171delinsTTAAAG
XM_005271562.5:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_005271619.2:n.8418+92_8418+97delinsCTTTAA
XM_006718843.4:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_006718906.1:n.8418+92_8418+97delinsCTTTAA
XM_006718845.2:c.4374+92_4374+97delinsCTTTAA (ATM)	XP_006718908.1:n.4374+92_4374+97delinsCTTTAA
XM_011542640.2:c.788-3104_788-3099delinsTTAAAG (C11orf65)	XP_011540942.1:n.788-3104_788-3099delinsTTAAAG
XM_011542643.2:c.732-3104_732-3099delinsTTAAAG (C11orf65)	XP_011540945.1:n.732-3104_732-3099delinsTTAAAG
XM_011542840.3:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_011541142.1:n.8418+92_8418+97delinsCTTTAA
XM_011542842.3:c.8253+92_8253+97delinsCTTTAA (ATM)	XP_011541144.1:n.8253+92_8253+97delinsCTTTAA
XM_011542843.2:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_011541145.1:n.8418+92_8418+97delinsCTTTAA
XM_011542844.3:c.7374+92_7374+97delinsCTTTAA (ATM)	XP_011541146.1:n.7374+92_7374+97delinsCTTTAA
XM_011542845.2:c.7110+92_7110+97delinsCTTTAA (ATM)	XP_011541147.1:n.7110+92_7110+97delinsCTTTAA
XM_017017247.1:c.904-3104_904-3099delinsTTAAAG (C11orf65)	XP_016872736.1:n.904-3104_904-3099delinsTTAAAG
XM_017017789.2:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_016873278.1:n.8418+92_8418+97delinsCTTTAA
XM_017017790.2:c.8418+92_8418+97delinsCTTTAA (ATM)	XP_016873279.1:n.8418+92_8418+97delinsCTTTAA
NM_001330368.2:c.641-34397_641-34392delinsTTAAAG (C11orf65)	NP_001317297.1:n.641-34397_641-34392delinsTTAAAG
NM_001351110.2:c.695-8176_695-8171delinsTTAAAG (C11orf65)	NP_001338039.1:n.695-8176_695-8171delinsTTAAAG
NM_001351834.2:c.8418+92_8418+97delinsCTTTAA (ATM)	NP_001338763.1:n.8418+92_8418+97delinsCTTTAA
NM_000051.4:c.8418+92_8418+97delinsCTTTAA (ATM) MANE Select	NP_000042.3:n.8418+92_8418+97delinsCTTTAA
NR_147053.3:n.2300-8176_2300-8171delinsTTAAAG (C11orf65)