Canonical Allele Identifier: CA658797736

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 524343
• ClinVar RCV Id: RCV000628056 ; RCV001026690
• dbSNP Id: rs1555124506
• gnomAD v4: 11-108331916-CTTTG-C
• MyVariant Identifiers: chr11:g.108202647_108202650del (hg19) ; chr11:g.108331920_108331923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331920_108331923del , CM000673.2:g.108331920_108331923del	GRCh38
NC_000011.9:g.108202647_108202650del , CM000673.1:g.108202647_108202650del	GRCh37
NC_000011.8:g.107707857_107707860del	NCBI36
NG_009830.1:g.114089_114092del , LRG_135:g.114089_114092del
NG_054724.1:g.142913_142916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7671_7674del (ATM)	ENSP00000388058.2:p.Phe2558LeufsTer5
ENST00000713593.1:c.*7142_*7145del (ATM)	ENSP00000518889.1:n.*7142_*7145del
ENST00000278616.9:c.7671_7674del (ATM)	ENSP00000278616.4:p.Phe2558LeufsTer5
ENST00000525056.2:n.2090_2093del (ATM)
ENST00000525537.3:n.628_631del (ATM)
ENST00000638786.2:n.508_511del (ATM)
ENST00000682286.1:n.2428_2431del (ATM)
ENST00000682302.1:n.2089_2092del (ATM)
ENST00000683174.1:n.9155_9158del (ATM)
ENST00000683524.1:n.2895_2898del (ATM)
ENST00000684152.1:n.3343+363_3343+366del (ATM)
ENST00000684447.1:n.2455_2458del (ATM)
ENST00000527805.6:c.*2735_*2738del (ATM)	ENSP00000435747.2:n.*2735_*2738del
ENST00000675595.1:c.*2806_*2809del (ATM)	ENSP00000502563.1:n.*2806_*2809del
ENST00000675843.1:c.7671_7674del (ATM) MANE Select	ENSP00000501606.1:p.Phe2558LeufsTer5
ENST00000278616.8:c.7671_7674del (ATM)	ENSP00000278616.4:p.Phe2558LeufsTer5
ENST00000452508.6:c.7671_7674del (ATM)	ENSP00000388058.2:p.Phe2558LeufsTer5
ENST00000524755.5:c.300-353_300-350del (C11orf65)
ENST00000524792.5:n.3886_3889del (ATM)
ENST00000525729.5:c.641-22849_641-22846del (C11orf65)	ENSP00000433395.1:n.641-22849_641-22846de...
ENST00000527531.5:c.*1270-353_*1270-350del (C11orf65)	ENSP00000431706.1:n.*1270-353_*1270-350de...
ENST00000533690.5:n.3075_3078del (ATM)
ENST00000615746.4:c.*1270-353_*1270-350del (C11orf65)	ENSP00000483537.1:n.*1270-353_*1270-350de...
NM_000051.3:c.7671_7674del , LRG_135t1:c.7671_7674del (ATM)	NP_000042.3:p.Phe2558LeufsTer5
XM_005271414.3:c.*39-353_*39-350del (C11orf65)	XP_005271471.1:n.*39-353_*39-350del
XM_005271415.3:c.805-353_805-350del (C11orf65)	XP_005271472.1:n.805-353_805-350del
XM_005271561.3:c.7671_7674del (ATM)	XP_005271618.2:p.Phe2558LeufsTer5
XM_005271562.3:c.7671_7674del (ATM)	XP_005271619.2:p.Phe2558LeufsTer5
XM_006718843.2:c.7671_7674del (ATM)	XP_006718906.1:p.Phe2558LeufsTer5
XM_006718845.1:c.3627_3630del (ATM)	XP_006718908.1:p.Phe1210LeufsTer5
XM_011542840.1:c.7671_7674del (ATM)	XP_011541142.1:p.Phe2558LeufsTer5
XM_011542841.1:c.7671_7674del (ATM)	XP_011541143.1:p.Phe2558LeufsTer5
XM_011542842.1:c.7506_7509del (ATM)	XP_011541144.1:p.Phe2503LeufsTer5
XM_011542843.1:c.7671_7674del (ATM)	XP_011541145.1:p.Phe2558LeufsTer5
XM_011542844.1:c.6627_6630del (ATM)	XP_011541146.1:p.Phe2210LeufsTer5
XM_011542845.1:c.6363_6366del (ATM)	XP_011541147.1:p.Phe2122LeufsTer5
XM_011542847.1:c.2742_2745del (ATM)	XP_011541149.1:p.Phe915LeufsTer5
NM_001330368.1:c.641-22849_641-22846del (C11orf65)	NP_001317297.1:n.641-22849_641-22846del
NM_001351110.1:c.*38+3300_*38+3303del (C11orf65)	NP_001338039.1:n.*38+3300_*38+3303del
NM_001351834.1:c.7671_7674del (ATM)	NP_001338763.1:p.Phe2558LeufsTer5
NR_147053.2:n.2375-353_2375-350del (C11orf65)
XM_005271414.4:c.*39-353_*39-350del (C11orf65)	XP_005271471.1:n.*39-353_*39-350del
XM_005271415.4:c.805-353_805-350del (C11orf65)	XP_005271472.1:n.805-353_805-350del
XM_005271562.5:c.7671_7674del (ATM)	XP_005271619.2:p.Phe2558LeufsTer5
XM_006718843.4:c.7671_7674del (ATM)	XP_006718906.1:p.Phe2558LeufsTer5
XM_006718845.2:c.3627_3630del (ATM)	XP_006718908.1:p.Phe1210LeufsTer5
XM_011542840.3:c.7671_7674del (ATM)	XP_011541142.1:p.Phe2558LeufsTer5
XM_011542842.3:c.7506_7509del (ATM)	XP_011541144.1:p.Phe2503LeufsTer5
XM_011542843.2:c.7671_7674del (ATM)	XP_011541145.1:p.Phe2558LeufsTer5
XM_011542844.3:c.6627_6630del (ATM)	XP_011541146.1:p.Phe2210LeufsTer5
XM_011542845.2:c.6363_6366del (ATM)	XP_011541147.1:p.Phe2122LeufsTer5
XM_017017789.2:c.7671_7674del (ATM)	XP_016873278.1:p.Phe2558LeufsTer5
XM_017017790.2:c.7671_7674del (ATM)	XP_016873279.1:p.Phe2558LeufsTer5
NM_001330368.2:c.641-22849_641-22846del (C11orf65)	NP_001317297.1:n.641-22849_641-22846del
NM_001351110.2:c.*38+3300_*38+3303del (C11orf65)	NP_001338039.1:n.*38+3300_*38+3303del
NM_001351834.2:c.7671_7674del (ATM)	NP_001338763.1:p.Phe2558LeufsTer5
NM_000051.4:c.7671_7674del (ATM) MANE Select	NP_000042.3:p.Phe2558LeufsTer5
NR_147053.3:n.2373-353_2373-350del (C11orf65)