Canonical Allele Identifier: CA1998806207

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321643_108321646delinsTATG , CM000673.2:g.108321643_108321646delinsTATG	GRCh38
NC_000011.9:g.108192370_108192373delinsTATG , CM000673.1:g.108192370_108192373delinsTATG	GRCh37
NC_000011.8:g.107697580_107697583delinsTATG	NCBI36
NG_009830.1:g.103812_103815delinsTATG , LRG_135:g.103812_103815delinsTATG
NG_054724.1:g.153187_153190delinsCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6572+223_6572+226delinsTATG (ATM)	ENSP00000388058.2:n.6572+223_6572+226delinsTATG
ENST00000713593.1:c.*6043+223_*6043+226delinsTATG (ATM)	ENSP00000518889.1:n.*6043+223_*6043+226delinsTATG
ENST00000278616.9:c.6572+223_6572+226delinsTATG (ATM)	ENSP00000278616.4:n.6572+223_6572+226delinsTATG
ENST00000525056.2:n.991+223_991+226delinsTATG (ATM)
ENST00000682286.1:n.1329+223_1329+226delinsTATG (ATM)
ENST00000682302.1:n.990+223_990+226delinsTATG (ATM)
ENST00000683174.1:n.8056+223_8056+226delinsTATG (ATM)
ENST00000683524.1:n.1796+223_1796+226delinsTATG (ATM)
ENST00000684152.1:n.2286+223_2286+226delinsTATG (ATM)
ENST00000527805.6:c.*1636+223_*1636+226delinsTATG (ATM)	ENSP00000435747.2:n.*1636+223_*1636+226delinsTATG
ENST00000675595.1:c.*1707+223_*1707+226delinsTATG (ATM)	ENSP00000502563.1:n.*1707+223_*1707+226delinsTATG
ENST00000675843.1:c.6572+223_6572+226delinsTATG (ATM) MANE Select	ENSP00000501606.1:n.6572+223_6572+226delinsTATG
ENST00000278616.8:c.6572+223_6572+226delinsTATG (ATM)	ENSP00000278616.4:n.6572+223_6572+226delinsTATG
ENST00000452508.6:c.6572+223_6572+226delinsTATG (ATM)	ENSP00000388058.2:n.6572+223_6572+226delinsTATG
ENST00000524792.5:n.2787+223_2787+226delinsTATG (ATM)
ENST00000525729.5:c.641-12575_641-12572delinsCATA (C11orf65)	ENSP00000433395.1:n.641-12575_641-12572delinsCATA
ENST00000533690.5:n.1976+223_1976+226delinsTATG (ATM)
NM_000051.3:c.6572+223_6572+226delinsTATG , LRG_135t1:c.6572+223_6572+226delinsTATG (ATM)	NP_000042.3:n.6572+223_6572+226delinsTATG
XM_005271561.3:c.6572+223_6572+226delinsTATG (ATM)	XP_005271618.2:n.6572+223_6572+226delinsTATG
XM_005271562.3:c.6572+223_6572+226delinsTATG (ATM)	XP_005271619.2:n.6572+223_6572+226delinsTATG
XM_006718843.2:c.6572+223_6572+226delinsTATG (ATM)	XP_006718906.1:n.6572+223_6572+226delinsTATG
XM_006718845.1:c.2528+223_2528+226delinsTATG (ATM)	XP_006718908.1:n.2528+223_2528+226delinsTATG
XM_011542840.1:c.6572+223_6572+226delinsTATG (ATM)	XP_011541142.1:n.6572+223_6572+226delinsTATG
XM_011542841.1:c.6572+223_6572+226delinsTATG (ATM)	XP_011541143.1:n.6572+223_6572+226delinsTATG
XM_011542842.1:c.6407+223_6407+226delinsTATG (ATM)	XP_011541144.1:n.6407+223_6407+226delinsTATG
XM_011542843.1:c.6572+223_6572+226delinsTATG (ATM)	XP_011541145.1:n.6572+223_6572+226delinsTATG
XM_011542844.1:c.5528+223_5528+226delinsTATG (ATM)	XP_011541146.1:n.5528+223_5528+226delinsTATG
XM_011542845.1:c.5264+223_5264+226delinsTATG (ATM)	XP_011541147.1:n.5264+223_5264+226delinsTATG
XM_011542847.1:c.1643+223_1643+226delinsTATG (ATM)	XP_011541149.1:n.1643+223_1643+226delinsTATG
NM_001330368.1:c.641-12575_641-12572delinsCATA (C11orf65)	NP_001317297.1:n.641-12575_641-12572delinsCATA
NM_001351110.1:c.*39-12575_*39-12572delinsCATA (C11orf65)	NP_001338039.1:n.*39-12575_*39-12572delinsCATA
NM_001351834.1:c.6572+223_6572+226delinsTATG (ATM)	NP_001338763.1:n.6572+223_6572+226delinsTATG
XM_005271562.5:c.6572+223_6572+226delinsTATG (ATM)	XP_005271619.2:n.6572+223_6572+226delinsTATG
XM_006718843.4:c.6572+223_6572+226delinsTATG (ATM)	XP_006718906.1:n.6572+223_6572+226delinsTATG
XM_006718845.2:c.2528+223_2528+226delinsTATG (ATM)	XP_006718908.1:n.2528+223_2528+226delinsTATG
XM_011542840.3:c.6572+223_6572+226delinsTATG (ATM)	XP_011541142.1:n.6572+223_6572+226delinsTATG
XM_011542842.3:c.6407+223_6407+226delinsTATG (ATM)	XP_011541144.1:n.6407+223_6407+226delinsTATG
XM_011542843.2:c.6572+223_6572+226delinsTATG (ATM)	XP_011541145.1:n.6572+223_6572+226delinsTATG
XM_011542844.3:c.5528+223_5528+226delinsTATG (ATM)	XP_011541146.1:n.5528+223_5528+226delinsTATG
XM_011542845.2:c.5264+223_5264+226delinsTATG (ATM)	XP_011541147.1:n.5264+223_5264+226delinsTATG
XM_017017789.2:c.6572+223_6572+226delinsTATG (ATM)	XP_016873278.1:n.6572+223_6572+226delinsTATG
XM_017017790.2:c.6572+223_6572+226delinsTATG (ATM)	XP_016873279.1:n.6572+223_6572+226delinsTATG
NM_001330368.2:c.641-12575_641-12572delinsCATA (C11orf65)	NP_001317297.1:n.641-12575_641-12572delinsCATA
NM_001351110.2:c.*39-12575_*39-12572delinsCATA (C11orf65)	NP_001338039.1:n.*39-12575_*39-12572delinsCATA
NM_001351834.2:c.6572+223_6572+226delinsTATG (ATM)	NP_001338763.1:n.6572+223_6572+226delinsTATG
NM_000051.4:c.6572+223_6572+226delinsTATG (ATM) MANE Select	NP_000042.3:n.6572+223_6572+226delinsTATG