Canonical Allele Identifier: CA2580083176

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1756729
• ClinVar RCV Id: RCV002364876

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327690del , CM000673.2:g.108327690del	GRCh38
NC_000011.9:g.108198417del , CM000673.1:g.108198417del	GRCh37
NC_000011.8:g.107703627del	NCBI36
NG_009830.1:g.109859del , LRG_135:g.109859del
NG_054724.1:g.147145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7021del (ATM)	ENSP00000388058.2:p.Cys2341ValfsTer5
ENST00000713593.1:c.*6492del (ATM)	ENSP00000518889.1:n.*6492del
ENST00000278616.9:c.7021del (ATM)	ENSP00000278616.4:p.Cys2341ValfsTer5
ENST00000525056.2:n.1440del (ATM)
ENST00000682286.1:n.1778del (ATM)
ENST00000682302.1:n.1439del (ATM)
ENST00000683174.1:n.8505del (ATM)
ENST00000683524.1:n.2245del (ATM)
ENST00000684152.1:n.2735del (ATM)
ENST00000684447.1:n.1484del (ATM)
ENST00000527805.6:c.*2085del (ATM)	ENSP00000435747.2:n.*2085del
ENST00000675595.1:c.*2156del (ATM)	ENSP00000502563.1:n.*2156del
ENST00000675843.1:c.7021del (ATM) MANE Select	ENSP00000501606.1:p.Cys2341ValfsTer5
ENST00000278616.8:c.7021del (ATM)	ENSP00000278616.4:p.Cys2341ValfsTer5
ENST00000452508.6:c.7021del (ATM)	ENSP00000388058.2:p.Cys2341ValfsTer5
ENST00000524792.5:n.3236del (ATM)
ENST00000525537.2:n.297del (ATM)
ENST00000525729.5:c.641-18617del (C11orf65)	ENSP00000433395.1:n.641-18617del
ENST00000527389.2:n.46del (ATM)
ENST00000533690.5:n.2425del (ATM)
NM_000051.3:c.7021del , LRG_135t1:c.7021del (ATM)	NP_000042.3:p.Cys2341ValfsTer5
XM_005271561.3:c.7021del (ATM)	XP_005271618.2:p.Cys2341ValfsTer5
XM_005271562.3:c.7021del (ATM)	XP_005271619.2:p.Cys2341ValfsTer5
XM_006718843.2:c.7021del (ATM)	XP_006718906.1:p.Cys2341ValfsTer5
XM_006718845.1:c.2977del (ATM)	XP_006718908.1:p.Cys993ValfsTer5
XM_011542840.1:c.7021del (ATM)	XP_011541142.1:p.Cys2341ValfsTer5
XM_011542841.1:c.7021del (ATM)	XP_011541143.1:p.Cys2341ValfsTer5
XM_011542842.1:c.6856del (ATM)	XP_011541144.1:p.Cys2286ValfsTer5
XM_011542843.1:c.7021del (ATM)	XP_011541145.1:p.Cys2341ValfsTer5
XM_011542844.1:c.5977del (ATM)	XP_011541146.1:p.Cys1993ValfsTer5
XM_011542845.1:c.5713del (ATM)	XP_011541147.1:p.Cys1905ValfsTer5
XM_011542847.1:c.2092del (ATM)	XP_011541149.1:p.Cys698ValfsTer5
NM_001330368.1:c.641-18617del (C11orf65)	NP_001317297.1:n.641-18617del
NM_001351110.1:c.*38+7532del (C11orf65)	NP_001338039.1:n.*38+7532del
NM_001351834.1:c.7021del (ATM)	NP_001338763.1:p.Cys2341ValfsTer5
XM_005271562.5:c.7021del (ATM)	XP_005271619.2:p.Cys2341ValfsTer5
XM_006718843.4:c.7021del (ATM)	XP_006718906.1:p.Cys2341ValfsTer5
XM_006718845.2:c.2977del (ATM)	XP_006718908.1:p.Cys993ValfsTer5
XM_011542840.3:c.7021del (ATM)	XP_011541142.1:p.Cys2341ValfsTer5
XM_011542842.3:c.6856del (ATM)	XP_011541144.1:p.Cys2286ValfsTer5
XM_011542843.2:c.7021del (ATM)	XP_011541145.1:p.Cys2341ValfsTer5
XM_011542844.3:c.5977del (ATM)	XP_011541146.1:p.Cys1993ValfsTer5
XM_011542845.2:c.5713del (ATM)	XP_011541147.1:p.Cys1905ValfsTer5
XM_017017789.2:c.7021del (ATM)	XP_016873278.1:p.Cys2341ValfsTer5
XM_017017790.2:c.7021del (ATM)	XP_016873279.1:p.Cys2341ValfsTer5
NM_001330368.2:c.641-18617del (C11orf65)	NP_001317297.1:n.641-18617del
NM_001351110.2:c.*38+7532del (C11orf65)	NP_001338039.1:n.*38+7532del
NM_001351834.2:c.7021del (ATM)	NP_001338763.1:p.Cys2341ValfsTer5
NM_000051.4:c.7021del (ATM) MANE Select	NP_000042.3:p.Cys2341ValfsTer5