Canonical Allele Identifier: CA2739265975

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2820569
• ClinVar RCV Id: RCV003606293

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315867_108315869dup , CM000673.2:g.108315867_108315869dup	GRCh38
NC_000011.9:g.108186594_108186596dup , CM000673.1:g.108186594_108186596dup	GRCh37
NC_000011.8:g.107691804_107691806dup	NCBI36
NG_009830.1:g.98036_98038dup , LRG_135:g.98036_98038dup
NG_054724.1:g.158964_158966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6051_6053dup (ATM)	ENSP00000388058.2:p.Ser2017_Leu2018insPhe
ENST00000713593.1:c.*5522_*5524dup (ATM)	ENSP00000518889.1:n.*5522_*5524dup
ENST00000278616.9:c.6051_6053dup (ATM)	ENSP00000278616.4:p.Ser2017_Leu2018insPhe
ENST00000525056.2:n.470_472dup (ATM)
ENST00000682286.1:n.808_810dup (ATM)
ENST00000682302.1:n.469_471dup (ATM)
ENST00000683174.1:n.7535_7537dup (ATM)
ENST00000683524.1:n.1275_1277dup (ATM)
ENST00000684152.1:n.1765_1767dup (ATM)
ENST00000527805.6:c.*1115_*1117dup (ATM)	ENSP00000435747.2:n.*1115_*1117dup
ENST00000675595.1:c.*1115_*1117dup (ATM)	ENSP00000502563.1:n.*1115_*1117dup
ENST00000675843.1:c.6051_6053dup (ATM) MANE Select	ENSP00000501606.1:p.Ser2017_Leu2018insPhe
ENST00000278616.8:c.6051_6053dup (ATM)	ENSP00000278616.4:p.Ser2017_Leu2018insPhe
ENST00000452508.6:c.6051_6053dup (ATM)	ENSP00000388058.2:p.Ser2017_Leu2018insPhe
ENST00000524792.5:n.2266_2268dup (ATM)
ENST00000525729.5:c.641-6798_641-6796dup (C11orf65)	ENSP00000433395.1:n.641-6798_641-6796dup
ENST00000529588.5:c.475_477dup (ATM)
ENST00000532765.1:n.368_370dup (ATM)
ENST00000533690.5:n.1455_1457dup (ATM)
NM_000051.3:c.6051_6053dup , LRG_135t1:c.6051_6053dup (ATM)	NP_000042.3:p.Ser2017_Leu2018insPhe
XM_005271561.3:c.6051_6053dup (ATM)	XP_005271618.2:p.Ser2017_Leu2018insPhe
XM_005271562.3:c.6051_6053dup (ATM)	XP_005271619.2:p.Ser2017_Leu2018insPhe
XM_006718843.2:c.6051_6053dup (ATM)	XP_006718906.1:p.Ser2017_Leu2018insPhe
XM_006718845.1:c.2007_2009dup (ATM)	XP_006718908.1:p.Ser669_Leu670insPhe
XM_011542840.1:c.6051_6053dup (ATM)	XP_011541142.1:p.Ser2017_Leu2018insPhe
XM_011542841.1:c.6051_6053dup (ATM)	XP_011541143.1:p.Ser2017_Leu2018insPhe
XM_011542842.1:c.5886_5888dup (ATM)	XP_011541144.1:p.Ser1962_Leu1963insPhe
XM_011542843.1:c.6051_6053dup (ATM)	XP_011541145.1:p.Ser2017_Leu2018insPhe
XM_011542844.1:c.5007_5009dup (ATM)	XP_011541146.1:p.Ser1669_Leu1670insPhe
XM_011542845.1:c.4743_4745dup (ATM)	XP_011541147.1:p.Ser1581_Leu1582insPhe
XM_011542847.1:c.1122_1124dup (ATM)	XP_011541149.1:p.Ser374_Leu375insPhe
NM_001330368.1:c.641-6798_641-6796dup (C11orf65)	NP_001317297.1:n.641-6798_641-6796dup
NM_001351110.1:c.*39-6798_*39-6796dup (C11orf65)	NP_001338039.1:n.*39-6798_*39-6796dup
NM_001351834.1:c.6051_6053dup (ATM)	NP_001338763.1:p.Ser2017_Leu2018insPhe
XM_005271562.5:c.6051_6053dup (ATM)	XP_005271619.2:p.Ser2017_Leu2018insPhe
XM_006718843.4:c.6051_6053dup (ATM)	XP_006718906.1:p.Ser2017_Leu2018insPhe
XM_006718845.2:c.2007_2009dup (ATM)	XP_006718908.1:p.Ser669_Leu670insPhe
XM_011542840.3:c.6051_6053dup (ATM)	XP_011541142.1:p.Ser2017_Leu2018insPhe
XM_011542842.3:c.5886_5888dup (ATM)	XP_011541144.1:p.Ser1962_Leu1963insPhe
XM_011542843.2:c.6051_6053dup (ATM)	XP_011541145.1:p.Ser2017_Leu2018insPhe
XM_011542844.3:c.5007_5009dup (ATM)	XP_011541146.1:p.Ser1669_Leu1670insPhe
XM_011542845.2:c.4743_4745dup (ATM)	XP_011541147.1:p.Ser1581_Leu1582insPhe
XM_017017789.2:c.6051_6053dup (ATM)	XP_016873278.1:p.Ser2017_Leu2018insPhe
XM_017017790.2:c.6051_6053dup (ATM)	XP_016873279.1:p.Ser2017_Leu2018insPhe
XM_017017791.1:c.6051_6053dup (ATM)	XP_016873280.1:p.Ser2017_Leu2018insPhe
NM_001330368.2:c.641-6798_641-6796dup (C11orf65)	NP_001317297.1:n.641-6798_641-6796dup
NM_001351110.2:c.*39-6798_*39-6796dup (C11orf65)	NP_001338039.1:n.*39-6798_*39-6796dup
NM_001351834.2:c.6051_6053dup (ATM)	NP_001338763.1:p.Ser2017_Leu2018insPhe
NM_000051.4:c.6051_6053dup (ATM) MANE Select	NP_000042.3:p.Ser2017_Leu2018insPhe