Canonical Allele Identifier: CA645372261

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321382_108321383delinsAT , CM000673.2:g.108321382_108321383delinsAT	GRCh38
NC_000011.9:g.108192109_108192110delinsAT , CM000673.1:g.108192109_108192110delinsAT	GRCh37
NC_000011.8:g.107697319_107697320delinsAT	NCBI36
NG_009830.1:g.103551_103552delinsAT , LRG_135:g.103551_103552delinsAT
NG_054724.1:g.153450_153451delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6534_6535delinsAT (ATM)	ENSP00000388058.2:p.Ile2179Phe
ENST00000713593.1:c.*6005_*6006delinsAT (ATM)	ENSP00000518889.1:n.*6005_*6006delinsAT
ENST00000278616.9:c.6534_6535delinsAT (ATM)	ENSP00000278616.4:p.Ile2179Phe
ENST00000525056.2:n.953_954delinsAT (ATM)
ENST00000682286.1:n.1291_1292delinsAT (ATM)
ENST00000682302.1:n.952_953delinsAT (ATM)
ENST00000683174.1:n.8018_8019delinsAT (ATM)
ENST00000683524.1:n.1758_1759delinsAT (ATM)
ENST00000684152.1:n.2248_2249delinsAT (ATM)
ENST00000527805.6:c.*1598_*1599delinsAT (ATM)	ENSP00000435747.2:n.*1598_*1599delinsAT
ENST00000675595.1:c.*1669_*1670delinsAT (ATM)	ENSP00000502563.1:n.*1669_*1670delinsAT
ENST00000675843.1:c.6534_6535delinsAT (ATM) MANE Select	ENSP00000501606.1:p.Ile2179Phe
ENST00000278616.8:c.6534_6535delinsAT (ATM)	ENSP00000278616.4:p.Ile2179Phe
ENST00000452508.6:c.6534_6535delinsAT (ATM)	ENSP00000388058.2:p.Ile2179Phe
ENST00000524792.5:n.2749_2750delinsAT (ATM)
ENST00000525729.5:c.641-12312_641-12311delinsAT (C11orf65)	ENSP00000433395.1:n.641-12312_641-12311delinsAT
ENST00000533690.5:n.1938_1939delinsAT (ATM)
NM_000051.3:c.6534_6535delinsAT , LRG_135t1:c.6534_6535delinsAT (ATM)	NP_000042.3:p.Ile2179Phe
XM_005271561.3:c.6534_6535delinsAT (ATM)	XP_005271618.2:p.Ile2179Phe
XM_005271562.3:c.6534_6535delinsAT (ATM)	XP_005271619.2:p.Ile2179Phe
XM_006718843.2:c.6534_6535delinsAT (ATM)	XP_006718906.1:p.Ile2179Phe
XM_006718845.1:c.2490_2491delinsAT (ATM)	XP_006718908.1:p.Ile831Phe
XM_011542840.1:c.6534_6535delinsAT (ATM)	XP_011541142.1:p.Ile2179Phe
XM_011542841.1:c.6534_6535delinsAT (ATM)	XP_011541143.1:p.Ile2179Phe
XM_011542842.1:c.6369_6370delinsAT (ATM)	XP_011541144.1:p.Ile2124Phe
XM_011542843.1:c.6534_6535delinsAT (ATM)	XP_011541145.1:p.Ile2179Phe
XM_011542844.1:c.5490_5491delinsAT (ATM)	XP_011541146.1:p.Ile1831Phe
XM_011542845.1:c.5226_5227delinsAT (ATM)	XP_011541147.1:p.Ile1743Phe
XM_011542847.1:c.1605_1606delinsAT (ATM)	XP_011541149.1:p.Ile536Phe
NM_001330368.1:c.641-12312_641-12311delinsAT (C11orf65)	NP_001317297.1:n.641-12312_641-12311delinsAT
NM_001351110.1:c.*39-12312_*39-12311delinsAT (C11orf65)	NP_001338039.1:n.*39-12312_*39-12311delinsAT
NM_001351834.1:c.6534_6535delinsAT (ATM)	NP_001338763.1:p.Ile2179Phe
XM_005271562.5:c.6534_6535delinsAT (ATM)	XP_005271619.2:p.Ile2179Phe
XM_006718843.4:c.6534_6535delinsAT (ATM)	XP_006718906.1:p.Ile2179Phe
XM_006718845.2:c.2490_2491delinsAT (ATM)	XP_006718908.1:p.Ile831Phe
XM_011542840.3:c.6534_6535delinsAT (ATM)	XP_011541142.1:p.Ile2179Phe
XM_011542842.3:c.6369_6370delinsAT (ATM)	XP_011541144.1:p.Ile2124Phe
XM_011542843.2:c.6534_6535delinsAT (ATM)	XP_011541145.1:p.Ile2179Phe
XM_011542844.3:c.5490_5491delinsAT (ATM)	XP_011541146.1:p.Ile1831Phe
XM_011542845.2:c.5226_5227delinsAT (ATM)	XP_011541147.1:p.Ile1743Phe
XM_017017789.2:c.6534_6535delinsAT (ATM)	XP_016873278.1:p.Ile2179Phe
XM_017017790.2:c.6534_6535delinsAT (ATM)	XP_016873279.1:p.Ile2179Phe
NM_001330368.2:c.641-12312_641-12311delinsAT (C11orf65)	NP_001317297.1:n.641-12312_641-12311delinsAT
NM_001351110.2:c.*39-12312_*39-12311delinsAT (C11orf65)	NP_001338039.1:n.*39-12312_*39-12311delinsAT
NM_001351834.2:c.6534_6535delinsAT (ATM)	NP_001338763.1:p.Ile2179Phe
NM_000051.4:c.6534_6535delinsAT (ATM) MANE Select	NP_000042.3:p.Ile2179Phe