Canonical Allele Identifier: CA1998816180

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2087866641
• gnomAD v3: 11-108343463-CTTTAA-C
• gnomAD v4: 11-108343463-CTTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343467_108343471del , CM000673.2:g.108343467_108343471del	GRCh38
NC_000011.9:g.108214194_108214198del , CM000673.1:g.108214194_108214198del	GRCh37
NC_000011.8:g.107719404_107719408del	NCBI36
NG_009830.1:g.125636_125640del , LRG_135:g.125636_125640del
NG_054724.1:g.131365_131369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8418+96_8418+100del (ATM)	ENSP00000388058.2:n.8418+96_8418+100del
ENST00000713593.1:c.*7889+96_*7889+100del (ATM)	ENSP00000518889.1:n.*7889+96_*7889+100del
ENST00000278616.9:c.8418+96_8418+100del (ATM)	ENSP00000278616.4:n.8418+96_8418+100del
ENST00000638786.2:n.1116+96_1116+100del (ATM)
ENST00000682286.1:n.3175+96_3175+100del (ATM)
ENST00000682302.1:n.2836+96_2836+100del (ATM)
ENST00000683174.1:n.9902+96_9902+100del (ATM)
ENST00000683524.1:n.3642+96_3642+100del (ATM)
ENST00000684152.1:n.3834+96_3834+100del (ATM)
ENST00000684180.1:n.892+96_892+100del (ATM)
ENST00000684447.1:n.4911+96_4911+100del (ATM)
ENST00000527805.6:c.*3482+96_*3482+100del (ATM)	ENSP00000435747.2:n.*3482+96_*3482+100del
ENST00000675595.1:c.*3553+96_*3553+100del (ATM)	ENSP00000502563.1:n.*3553+96_*3553+100del
ENST00000675843.1:c.8418+96_8418+100del (ATM) MANE Select	ENSP00000501606.1:n.8418+96_8418+100del
ENST00000278616.8:c.8418+96_8418+100del (ATM)	ENSP00000278616.4:n.8418+96_8418+100del
ENST00000452508.6:c.8418+96_8418+100del (ATM)	ENSP00000388058.2:n.8418+96_8418+100del
ENST00000524755.5:c.227-8176_227-8172del (C11orf65)
ENST00000524792.5:n.4633+96_4633+100del (ATM)
ENST00000525729.5:c.641-34397_641-34393del (C11orf65)	ENSP00000433395.1:n.641-34397_641-34393del
ENST00000526725.1:n.272-3104_272-3100del (C11orf65)
ENST00000527531.5:c.*1197-8176_*1197-8172del (C11orf65)	ENSP00000431706.1:n.*1197-8176_*1197-8172del
ENST00000615746.4:c.*1197-8176_*1197-8172del (C11orf65)	ENSP00000483537.1:n.*1197-8176_*1197-8172del
NM_000051.3:c.8418+96_8418+100del , LRG_135t1:c.8418+96_8418+100del (ATM)	NP_000042.3:n.8418+96_8418+100del
XM_005271414.3:c.788-8176_788-8172del (C11orf65)	XP_005271471.1:n.788-8176_788-8172del
XM_005271415.3:c.732-8176_732-8172del (C11orf65)	XP_005271472.1:n.732-8176_732-8172del
XM_005271561.3:c.8418+96_8418+100del (ATM)	XP_005271618.2:n.8418+96_8418+100del
XM_005271562.3:c.8418+96_8418+100del (ATM)	XP_005271619.2:n.8418+96_8418+100del
XM_006718843.2:c.8418+96_8418+100del (ATM)	XP_006718906.1:n.8418+96_8418+100del
XM_006718845.1:c.4374+96_4374+100del (ATM)	XP_006718908.1:n.4374+96_4374+100del
XM_011542640.1:c.788-3104_788-3100del (C11orf65)	XP_011540942.1:n.788-3104_788-3100del
XM_011542643.1:c.732-3104_732-3100del (C11orf65)	XP_011540945.1:n.732-3104_732-3100del
XM_011542840.1:c.8418+96_8418+100del (ATM)	XP_011541142.1:n.8418+96_8418+100del
XM_011542841.1:c.8418+96_8418+100del (ATM)	XP_011541143.1:n.8418+96_8418+100del
XM_011542842.1:c.8253+96_8253+100del (ATM)	XP_011541144.1:n.8253+96_8253+100del
XM_011542843.1:c.8418+96_8418+100del (ATM)	XP_011541145.1:n.8418+96_8418+100del
XM_011542844.1:c.7374+96_7374+100del (ATM)	XP_011541146.1:n.7374+96_7374+100del
XM_011542845.1:c.7110+96_7110+100del (ATM)	XP_011541147.1:n.7110+96_7110+100del
XM_011542847.1:c.3489+96_3489+100del (ATM)	XP_011541149.1:n.3489+96_3489+100del
NM_001330368.1:c.641-34397_641-34393del (C11orf65)	NP_001317297.1:n.641-34397_641-34393del
NM_001351110.1:c.695-8176_695-8172del (C11orf65)	NP_001338039.1:n.695-8176_695-8172del
NM_001351834.1:c.8418+96_8418+100del (ATM)	NP_001338763.1:n.8418+96_8418+100del
NR_147053.2:n.2302-8176_2302-8172del (C11orf65)
XM_005271414.4:c.788-8176_788-8172del (C11orf65)	XP_005271471.1:n.788-8176_788-8172del
XM_005271415.4:c.732-8176_732-8172del (C11orf65)	XP_005271472.1:n.732-8176_732-8172del
XM_005271562.5:c.8418+96_8418+100del (ATM)	XP_005271619.2:n.8418+96_8418+100del
XM_006718843.4:c.8418+96_8418+100del (ATM)	XP_006718906.1:n.8418+96_8418+100del
XM_006718845.2:c.4374+96_4374+100del (ATM)	XP_006718908.1:n.4374+96_4374+100del
XM_011542640.2:c.788-3104_788-3100del (C11orf65)	XP_011540942.1:n.788-3104_788-3100del
XM_011542643.2:c.732-3104_732-3100del (C11orf65)	XP_011540945.1:n.732-3104_732-3100del
XM_011542840.3:c.8418+96_8418+100del (ATM)	XP_011541142.1:n.8418+96_8418+100del
XM_011542842.3:c.8253+96_8253+100del (ATM)	XP_011541144.1:n.8253+96_8253+100del
XM_011542843.2:c.8418+96_8418+100del (ATM)	XP_011541145.1:n.8418+96_8418+100del
XM_011542844.3:c.7374+96_7374+100del (ATM)	XP_011541146.1:n.7374+96_7374+100del
XM_011542845.2:c.7110+96_7110+100del (ATM)	XP_011541147.1:n.7110+96_7110+100del
XM_017017247.1:c.904-3104_904-3100del (C11orf65)	XP_016872736.1:n.904-3104_904-3100del
XM_017017789.2:c.8418+96_8418+100del (ATM)	XP_016873278.1:n.8418+96_8418+100del
XM_017017790.2:c.8418+96_8418+100del (ATM)	XP_016873279.1:n.8418+96_8418+100del
NM_001330368.2:c.641-34397_641-34393del (C11orf65)	NP_001317297.1:n.641-34397_641-34393del
NM_001351110.2:c.695-8176_695-8172del (C11orf65)	NP_001338039.1:n.695-8176_695-8172del
NM_001351834.2:c.8418+96_8418+100del (ATM)	NP_001338763.1:n.8418+96_8418+100del
NM_000051.4:c.8418+96_8418+100del (ATM) MANE Select	NP_000042.3:n.8418+96_8418+100del
NR_147053.3:n.2300-8176_2300-8172del (C11orf65)