Canonical Allele Identifier: CA10579250

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 230341
• ClinVar RCV Id: RCV000216898 ; RCV004020651 ; RCV000223734
• dbSNP Id: rs876658512
• MyVariant Identifiers: chr11:g.108198484del (hg19) ; chr11:g.108327757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327757del , CM000673.2:g.108327757del	GRCh38
NC_000011.9:g.108198484del , CM000673.1:g.108198484del	GRCh37
NC_000011.8:g.107703694del	NCBI36
NG_009830.1:g.109926del , LRG_135:g.109926del
NG_054724.1:g.147079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7088del (ATM)	ENSP00000388058.2:p.Lys2363ArgfsTer3
ENST00000713593.1:c.*6559del (ATM)	ENSP00000518889.1:n.*6559del
ENST00000278616.9:c.7088del (ATM)	ENSP00000278616.4:p.Lys2363ArgfsTer3
ENST00000525056.2:n.1507del (ATM)
ENST00000525537.3:n.45del (ATM)
ENST00000682286.1:n.1845del (ATM)
ENST00000682302.1:n.1506del (ATM)
ENST00000683174.1:n.8572del (ATM)
ENST00000683524.1:n.2312del (ATM)
ENST00000684152.1:n.2802del (ATM)
ENST00000684447.1:n.1551del (ATM)
ENST00000527805.6:c.*2152del (ATM)	ENSP00000435747.2:n.*2152del
ENST00000675595.1:c.*2223del (ATM)	ENSP00000502563.1:n.*2223del
ENST00000675843.1:c.7088del (ATM) MANE Select	ENSP00000501606.1:p.Lys2363ArgfsTer3
ENST00000278616.8:c.7088del (ATM)	ENSP00000278616.4:p.Lys2363ArgfsTer3
ENST00000452508.6:c.7088del (ATM)	ENSP00000388058.2:p.Lys2363ArgfsTer3
ENST00000524792.5:n.3303del (ATM)
ENST00000525537.2:n.364del (ATM)
ENST00000525729.5:c.641-18683del (C11orf65)	ENSP00000433395.1:n.641-18683del
ENST00000527389.2:n.113del (ATM)
ENST00000533690.5:n.2492del (ATM)
NM_000051.3:c.7088del , LRG_135t1:c.7088del (ATM)	NP_000042.3:p.Lys2363ArgfsTer3
XM_005271561.3:c.7088del (ATM)	XP_005271618.2:p.Lys2363ArgfsTer3
XM_005271562.3:c.7088del (ATM)	XP_005271619.2:p.Lys2363ArgfsTer3
XM_006718843.2:c.7088del (ATM)	XP_006718906.1:p.Lys2363ArgfsTer3
XM_006718845.1:c.3044del (ATM)	XP_006718908.1:p.Lys1015ArgfsTer3
XM_011542840.1:c.7088del (ATM)	XP_011541142.1:p.Lys2363ArgfsTer3
XM_011542841.1:c.7088del (ATM)	XP_011541143.1:p.Lys2363ArgfsTer3
XM_011542842.1:c.6923del (ATM)	XP_011541144.1:p.Lys2308ArgfsTer3
XM_011542843.1:c.7088del (ATM)	XP_011541145.1:p.Lys2363ArgfsTer3
XM_011542844.1:c.6044del (ATM)	XP_011541146.1:p.Lys2015ArgfsTer3
XM_011542845.1:c.5780del (ATM)	XP_011541147.1:p.Lys1927ArgfsTer3
XM_011542847.1:c.2159del (ATM)	XP_011541149.1:p.Lys720ArgfsTer3
NM_001330368.1:c.641-18683del (C11orf65)	NP_001317297.1:n.641-18683del
NM_001351110.1:c.*38+7466del (C11orf65)	NP_001338039.1:n.*38+7466del
NM_001351834.1:c.7088del (ATM)	NP_001338763.1:p.Lys2363ArgfsTer3
XM_005271562.5:c.7088del (ATM)	XP_005271619.2:p.Lys2363ArgfsTer3
XM_006718843.4:c.7088del (ATM)	XP_006718906.1:p.Lys2363ArgfsTer3
XM_006718845.2:c.3044del (ATM)	XP_006718908.1:p.Lys1015ArgfsTer3
XM_011542840.3:c.7088del (ATM)	XP_011541142.1:p.Lys2363ArgfsTer3
XM_011542842.3:c.6923del (ATM)	XP_011541144.1:p.Lys2308ArgfsTer3
XM_011542843.2:c.7088del (ATM)	XP_011541145.1:p.Lys2363ArgfsTer3
XM_011542844.3:c.6044del (ATM)	XP_011541146.1:p.Lys2015ArgfsTer3
XM_011542845.2:c.5780del (ATM)	XP_011541147.1:p.Lys1927ArgfsTer3
XM_017017789.2:c.7088del (ATM)	XP_016873278.1:p.Lys2363ArgfsTer3
XM_017017790.2:c.7088del (ATM)	XP_016873279.1:p.Lys2363ArgfsTer3
NM_001330368.2:c.641-18683del (C11orf65)	NP_001317297.1:n.641-18683del
NM_001351110.2:c.*38+7466del (C11orf65)	NP_001338039.1:n.*38+7466del
NM_001351834.2:c.7088del (ATM)	NP_001338763.1:p.Lys2363ArgfsTer3
NM_000051.4:c.7088del (ATM) MANE Select	NP_000042.3:p.Lys2363ArgfsTer3