Canonical Allele Identifier: CA2825001938

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3222669
• ClinVar RCV Id: RCV004516053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326181_108326183del , CM000673.2:g.108326181_108326183del	GRCh38
NC_000011.9:g.108196908_108196910del , CM000673.1:g.108196908_108196910del	GRCh37
NC_000011.8:g.107702118_107702120del	NCBI36
NG_009830.1:g.108350_108352del , LRG_135:g.108350_108352del
NG_054724.1:g.148651_148653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6931_6933del (ATM)	ENSP00000388058.2:p.Ile2311del
ENST00000713593.1:c.*6402_*6404del (ATM)	ENSP00000518889.1:n.*6402_*6404del
ENST00000278616.9:c.6931_6933del (ATM)	ENSP00000278616.4:p.Ile2311del
ENST00000525056.2:n.1350_1352del (ATM)
ENST00000682286.1:n.1688_1690del (ATM)
ENST00000682302.1:n.1349_1351del (ATM)
ENST00000683174.1:n.8415_8417del (ATM)
ENST00000683524.1:n.2155_2157del (ATM)
ENST00000684152.1:n.2645_2647del (ATM)
ENST00000527805.6:c.*1995_*1997del (ATM)	ENSP00000435747.2:n.*1995_*1997del
ENST00000675595.1:c.*2066_*2068del (ATM)	ENSP00000502563.1:n.*2066_*2068del
ENST00000675843.1:c.6931_6933del (ATM) MANE Select	ENSP00000501606.1:p.Ile2311del
ENST00000278616.8:c.6931_6933del (ATM)	ENSP00000278616.4:p.Ile2311del
ENST00000452508.6:c.6931_6933del (ATM)	ENSP00000388058.2:p.Ile2311del
ENST00000524792.5:n.3146_3148del (ATM)
ENST00000525729.5:c.641-17111_641-17109del (C11orf65)	ENSP00000433395.1:n.641-17111_641-17109del
ENST00000533690.5:n.2335_2337del (ATM)
NM_000051.3:c.6931_6933del , LRG_135t1:c.6931_6933del (ATM)	NP_000042.3:p.Ile2311del
XM_005271561.3:c.6931_6933del (ATM)	XP_005271618.2:p.Ile2311del
XM_005271562.3:c.6931_6933del (ATM)	XP_005271619.2:p.Ile2311del
XM_006718843.2:c.6931_6933del (ATM)	XP_006718906.1:p.Ile2311del
XM_006718845.1:c.2887_2889del (ATM)	XP_006718908.1:p.Ile963del
XM_011542840.1:c.6931_6933del (ATM)	XP_011541142.1:p.Ile2311del
XM_011542841.1:c.6931_6933del (ATM)	XP_011541143.1:p.Ile2311del
XM_011542842.1:c.6766_6768del (ATM)	XP_011541144.1:p.Ile2256del
XM_011542843.1:c.6931_6933del (ATM)	XP_011541145.1:p.Ile2311del
XM_011542844.1:c.5887_5889del (ATM)	XP_011541146.1:p.Ile1963del
XM_011542845.1:c.5623_5625del (ATM)	XP_011541147.1:p.Ile1875del
XM_011542847.1:c.2002_2004del (ATM)	XP_011541149.1:p.Ile668del
NM_001330368.1:c.641-17111_641-17109del (C11orf65)	NP_001317297.1:n.641-17111_641-17109del
NM_001351110.1:c.*38+9038_*38+9040del (C11orf65)	NP_001338039.1:n.*38+9038_*38+9040del
NM_001351834.1:c.6931_6933del (ATM)	NP_001338763.1:p.Ile2311del
XM_005271562.5:c.6931_6933del (ATM)	XP_005271619.2:p.Ile2311del
XM_006718843.4:c.6931_6933del (ATM)	XP_006718906.1:p.Ile2311del
XM_006718845.2:c.2887_2889del (ATM)	XP_006718908.1:p.Ile963del
XM_011542840.3:c.6931_6933del (ATM)	XP_011541142.1:p.Ile2311del
XM_011542842.3:c.6766_6768del (ATM)	XP_011541144.1:p.Ile2256del
XM_011542843.2:c.6931_6933del (ATM)	XP_011541145.1:p.Ile2311del
XM_011542844.3:c.5887_5889del (ATM)	XP_011541146.1:p.Ile1963del
XM_011542845.2:c.5623_5625del (ATM)	XP_011541147.1:p.Ile1875del
XM_017017789.2:c.6931_6933del (ATM)	XP_016873278.1:p.Ile2311del
XM_017017790.2:c.6931_6933del (ATM)	XP_016873279.1:p.Ile2311del
NM_001330368.2:c.641-17111_641-17109del (C11orf65)	NP_001317297.1:n.641-17111_641-17109del
NM_001351110.2:c.*38+9038_*38+9040del (C11orf65)	NP_001338039.1:n.*38+9038_*38+9040del
NM_001351834.2:c.6931_6933del (ATM)	NP_001338763.1:p.Ile2311del
NM_000051.4:c.6931_6933del (ATM) MANE Select	NP_000042.3:p.Ile2311del