Canonical Allele Identifier: CA1998816209

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343528_108343532delinsTGTGA , CM000673.2:g.108343528_108343532delinsTGTGA	GRCh38
NC_000011.9:g.108214255_108214259delinsTGTGA , CM000673.1:g.108214255_108214259delinsTGTGA	GRCh37
NC_000011.8:g.107719465_107719469delinsTGTGA	NCBI36
NG_009830.1:g.125697_125701delinsTGTGA , LRG_135:g.125697_125701delinsTGTGA
NG_054724.1:g.131301_131305delinsTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8418+157_8418+161delinsTGTGA (ATM)	ENSP00000388058.2:n.8418+157_8418+161delinsTGTGA
ENST00000713593.1:c.*7889+157_*7889+161delinsTGTGA (ATM)	ENSP00000518889.1:n.*7889+157_*7889+161delinsTGTGA
ENST00000278616.9:c.8418+157_8418+161delinsTGTGA (ATM)	ENSP00000278616.4:n.8418+157_8418+161delinsTGTGA
ENST00000638786.2:n.1116+157_1116+161delinsTGTGA (ATM)
ENST00000682286.1:n.3175+157_3175+161delinsTGTGA (ATM)
ENST00000682302.1:n.2836+157_2836+161delinsTGTGA (ATM)
ENST00000683174.1:n.9902+157_9902+161delinsTGTGA (ATM)
ENST00000683524.1:n.3642+157_3642+161delinsTGTGA (ATM)
ENST00000684152.1:n.3834+157_3834+161delinsTGTGA (ATM)
ENST00000684180.1:n.892+157_892+161delinsTGTGA (ATM)
ENST00000684447.1:n.4911+157_4911+161delinsTGTGA (ATM)
ENST00000527805.6:c.*3482+157_*3482+161delinsTGTGA (ATM)	ENSP00000435747.2:n.*3482+157_*3482+161delinsTGTGA
ENST00000675595.1:c.*3553+157_*3553+161delinsTGTGA (ATM)	ENSP00000502563.1:n.*3553+157_*3553+161delinsTGTGA
ENST00000675843.1:c.8418+157_8418+161delinsTGTGA (ATM) MANE Select	ENSP00000501606.1:n.8418+157_8418+161delinsTGTGA
ENST00000278616.8:c.8418+157_8418+161delinsTGTGA (ATM)	ENSP00000278616.4:n.8418+157_8418+161delinsTGTGA
ENST00000452508.6:c.8418+157_8418+161delinsTGTGA (ATM)	ENSP00000388058.2:n.8418+157_8418+161delinsTGTGA
ENST00000524755.5:c.227-8240_227-8236delinsTCACA (C11orf65)
ENST00000524792.5:n.4633+157_4633+161delinsTGTGA (ATM)
ENST00000525729.5:c.641-34461_641-34457delinsTCACA (C11orf65)	ENSP00000433395.1:n.641-34461_641-34457delinsTCACA
ENST00000526725.1:n.272-3168_272-3164delinsTCACA (C11orf65)
ENST00000527531.5:c.*1197-8240_*1197-8236delinsTCACA (C11orf65)	ENSP00000431706.1:n.*1197-8240_*1197-8236delinsTCACA
ENST00000615746.4:c.*1197-8240_*1197-8236delinsTCACA (C11orf65)	ENSP00000483537.1:n.*1197-8240_*1197-8236delinsTCACA
NM_000051.3:c.8418+157_8418+161delinsTGTGA , LRG_135t1:c.8418+157_8418+161delinsTGTGA (ATM)	NP_000042.3:n.8418+157_8418+161delinsTGTGA
XM_005271414.3:c.788-8240_788-8236delinsTCACA (C11orf65)	XP_005271471.1:n.788-8240_788-8236delinsTCACA
XM_005271415.3:c.732-8240_732-8236delinsTCACA (C11orf65)	XP_005271472.1:n.732-8240_732-8236delinsTCACA
XM_005271561.3:c.8418+157_8418+161delinsTGTGA (ATM)	XP_005271618.2:n.8418+157_8418+161delinsTGTGA
XM_005271562.3:c.8418+157_8418+161delinsTGTGA (ATM)	XP_005271619.2:n.8418+157_8418+161delinsTGTGA
XM_006718843.2:c.8418+157_8418+161delinsTGTGA (ATM)	XP_006718906.1:n.8418+157_8418+161delinsTGTGA
XM_006718845.1:c.4374+157_4374+161delinsTGTGA (ATM)	XP_006718908.1:n.4374+157_4374+161delinsTGTGA
XM_011542640.1:c.788-3168_788-3164delinsTCACA (C11orf65)	XP_011540942.1:n.788-3168_788-3164delinsTCACA
XM_011542643.1:c.732-3168_732-3164delinsTCACA (C11orf65)	XP_011540945.1:n.732-3168_732-3164delinsTCACA
XM_011542840.1:c.8418+157_8418+161delinsTGTGA (ATM)	XP_011541142.1:n.8418+157_8418+161delinsTGTGA
XM_011542841.1:c.8418+157_8418+161delinsTGTGA (ATM)	XP_011541143.1:n.8418+157_8418+161delinsTGTGA
XM_011542842.1:c.8253+157_8253+161delinsTGTGA (ATM)	XP_011541144.1:n.8253+157_8253+161delinsTGTGA
XM_011542843.1:c.8418+157_8418+161delinsTGTGA (ATM)	XP_011541145.1:n.8418+157_8418+161delinsTGTGA
XM_011542844.1:c.7374+157_7374+161delinsTGTGA (ATM)	XP_011541146.1:n.7374+157_7374+161delinsTGTGA
XM_011542845.1:c.7110+157_7110+161delinsTGTGA (ATM)	XP_011541147.1:n.7110+157_7110+161delinsTGTGA
XM_011542847.1:c.3489+157_3489+161delinsTGTGA (ATM)	XP_011541149.1:n.3489+157_3489+161delinsTGTGA
NM_001330368.1:c.641-34461_641-34457delinsTCACA (C11orf65)	NP_001317297.1:n.641-34461_641-34457delinsTCACA
NM_001351110.1:c.695-8240_695-8236delinsTCACA (C11orf65)	NP_001338039.1:n.695-8240_695-8236delinsTCACA
NM_001351834.1:c.8418+157_8418+161delinsTGTGA (ATM)	NP_001338763.1:n.8418+157_8418+161delinsTGTGA
NR_147053.2:n.2302-8240_2302-8236delinsTCACA (C11orf65)
XM_005271414.4:c.788-8240_788-8236delinsTCACA (C11orf65)	XP_005271471.1:n.788-8240_788-8236delinsTCACA
XM_005271415.4:c.732-8240_732-8236delinsTCACA (C11orf65)	XP_005271472.1:n.732-8240_732-8236delinsTCACA
XM_005271562.5:c.8418+157_8418+161delinsTGTGA (ATM)	XP_005271619.2:n.8418+157_8418+161delinsTGTGA
XM_006718843.4:c.8418+157_8418+161delinsTGTGA (ATM)	XP_006718906.1:n.8418+157_8418+161delinsTGTGA
XM_006718845.2:c.4374+157_4374+161delinsTGTGA (ATM)	XP_006718908.1:n.4374+157_4374+161delinsTGTGA
XM_011542640.2:c.788-3168_788-3164delinsTCACA (C11orf65)	XP_011540942.1:n.788-3168_788-3164delinsTCACA
XM_011542643.2:c.732-3168_732-3164delinsTCACA (C11orf65)	XP_011540945.1:n.732-3168_732-3164delinsTCACA
XM_011542840.3:c.8418+157_8418+161delinsTGTGA (ATM)	XP_011541142.1:n.8418+157_8418+161delinsTGTGA
XM_011542842.3:c.8253+157_8253+161delinsTGTGA (ATM)	XP_011541144.1:n.8253+157_8253+161delinsTGTGA
XM_011542843.2:c.8418+157_8418+161delinsTGTGA (ATM)	XP_011541145.1:n.8418+157_8418+161delinsTGTGA
XM_011542844.3:c.7374+157_7374+161delinsTGTGA (ATM)	XP_011541146.1:n.7374+157_7374+161delinsTGTGA
XM_011542845.2:c.7110+157_7110+161delinsTGTGA (ATM)	XP_011541147.1:n.7110+157_7110+161delinsTGTGA
XM_017017247.1:c.904-3168_904-3164delinsTCACA (C11orf65)	XP_016872736.1:n.904-3168_904-3164delinsTCACA
XM_017017789.2:c.8418+157_8418+161delinsTGTGA (ATM)	XP_016873278.1:n.8418+157_8418+161delinsTGTGA
XM_017017790.2:c.8418+157_8418+161delinsTGTGA (ATM)	XP_016873279.1:n.8418+157_8418+161delinsTGTGA
NM_001330368.2:c.641-34461_641-34457delinsTCACA (C11orf65)	NP_001317297.1:n.641-34461_641-34457delinsTCACA
NM_001351110.2:c.695-8240_695-8236delinsTCACA (C11orf65)	NP_001338039.1:n.695-8240_695-8236delinsTCACA
NM_001351834.2:c.8418+157_8418+161delinsTGTGA (ATM)	NP_001338763.1:n.8418+157_8418+161delinsTGTGA
NM_000051.4:c.8418+157_8418+161delinsTGTGA (ATM) MANE Select	NP_000042.3:n.8418+157_8418+161delinsTGTGA
NR_147053.3:n.2300-8240_2300-8236delinsTCACA (C11orf65)