Canonical Allele Identifier: CA16606221

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 385316
• ClinVar RCV Id: RCV000444695 ; RCV000563960 ; RCV001036665
• dbSNP Id: rs1057522186
• gnomAD v4: 11-108354879-A-C
• MyVariant Identifiers: chr11:g.108225606A>C (hg19) ; chr11:g.108354879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354879A>C , CM000673.2:g.108354879A>C	GRCh38
NC_000011.9:g.108225606A>C , CM000673.1:g.108225606A>C	GRCh37
NC_000011.8:g.107730816A>C	NCBI36
NG_009830.1:g.137048A>C , LRG_135:g.137048A>C
NG_054724.1:g.119954T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8850+5A>C (ATM)	ENSP00000388058.2:n.8850+5A>C
ENST00000713593.1:c.*8321+5A>C (ATM)	ENSP00000518889.1:n.*8321+5A>C
ENST00000278616.9:c.8850+5A>C (ATM)	ENSP00000278616.4:n.8850+5A>C
ENST00000638786.2:n.1548+5A>C (ATM)
ENST00000682286.1:n.3607+5A>C (ATM)
ENST00000682302.1:n.3268+5A>C (ATM)
ENST00000683174.1:n.10334+5A>C (ATM)
ENST00000683524.1:n.4074+5A>C (ATM)
ENST00000684152.1:n.4266+5A>C (ATM)
ENST00000684180.1:n.1324+5A>C (ATM)
ENST00000684447.1:n.5343+5A>C (ATM)
ENST00000527805.6:c.*3914+5A>C (ATM)	ENSP00000435747.2:n.*3914+5A>C
ENST00000675595.1:c.*3985+5A>C (ATM)	ENSP00000502563.1:n.*3985+5A>C
ENST00000675843.1:c.8850+5A>C (ATM) MANE Select	ENSP00000501606.1:n.8850+5A>C
ENST00000278616.8:c.8850+5A>C (ATM)	ENSP00000278616.4:n.8850+5A>C
ENST00000452508.6:c.8850+5A>C (ATM)	ENSP00000388058.2:n.8850+5A>C
ENST00000524755.5:c.227-19587T>G (C11orf65)
ENST00000524792.5:n.5065+5A>C (ATM)
ENST00000525178.5:n.338+5A>C (ATM)
ENST00000525729.5:c.640+31041T>G (C11orf65)	ENSP00000433395.1:n.640+31041T>G
ENST00000526725.1:n.272-14515T>G (C11orf65)
ENST00000527181.1:n.189+5A>C (ATM)
ENST00000527531.5:c.*1196+36T>G (C11orf65)	ENSP00000431706.1:n.*1196+36T>G
ENST00000615746.4:c.*1196+36T>G (C11orf65)	ENSP00000483537.1:n.*1196+36T>G
NM_000051.3:c.8850+5A>C , LRG_135t1:c.8850+5A>C (ATM)	NP_000042.3:n.8850+5A>C
XM_005271414.3:c.788-19587T>G (C11orf65)	XP_005271471.1:n.788-19587T>G
XM_005271415.3:c.732-19587T>G (C11orf65)	XP_005271472.1:n.732-19587T>G
XM_005271561.3:c.8850+5A>C (ATM)	XP_005271618.2:n.8850+5A>C
XM_005271562.3:c.8850+5A>C (ATM)	XP_005271619.2:n.8850+5A>C
XM_006718843.2:c.8850+5A>C (ATM)	XP_006718906.1:n.8850+5A>C
XM_006718845.1:c.4806+5A>C (ATM)	XP_006718908.1:n.4806+5A>C
XM_011542640.1:c.788-14515T>G (C11orf65)	XP_011540942.1:n.788-14515T>G
XM_011542642.1:c.732-5806T>G (C11orf65)	XP_011540944.1:n.732-5806T>G
XM_011542643.1:c.732-14515T>G (C11orf65)	XP_011540945.1:n.732-14515T>G
XM_011542840.1:c.8850+5A>C (ATM)	XP_011541142.1:n.8850+5A>C
XM_011542841.1:c.8850+5A>C (ATM)	XP_011541143.1:n.8850+5A>C
XM_011542842.1:c.8685+5A>C (ATM)	XP_011541144.1:n.8685+5A>C
XM_011542844.1:c.7806+5A>C (ATM)	XP_011541146.1:n.7806+5A>C
XM_011542845.1:c.7542+5A>C (ATM)	XP_011541147.1:n.7542+5A>C
XM_011542847.1:c.3921+5A>C (ATM)	XP_011541149.1:n.3921+5A>C
NM_001330368.1:c.640+31041T>G (C11orf65)	NP_001317297.1:n.640+31041T>G
NM_001351110.1:c.695-19587T>G (C11orf65)	NP_001338039.1:n.695-19587T>G
NM_001351834.1:c.8850+5A>C (ATM)	NP_001338763.1:n.8850+5A>C
NR_147053.2:n.2301+36T>G (C11orf65)
XM_005271414.4:c.788-19587T>G (C11orf65)	XP_005271471.1:n.788-19587T>G
XM_005271415.4:c.732-19587T>G (C11orf65)	XP_005271472.1:n.732-19587T>G
XM_005271562.5:c.8850+5A>C (ATM)	XP_005271619.2:n.8850+5A>C
XM_006718843.4:c.8850+5A>C (ATM)	XP_006718906.1:n.8850+5A>C
XM_006718845.2:c.4806+5A>C (ATM)	XP_006718908.1:n.4806+5A>C
XM_011542640.2:c.788-14515T>G (C11orf65)	XP_011540942.1:n.788-14515T>G
XM_011542643.2:c.732-14515T>G (C11orf65)	XP_011540945.1:n.732-14515T>G
XM_011542840.3:c.8850+5A>C (ATM)	XP_011541142.1:n.8850+5A>C
XM_011542842.3:c.8685+5A>C (ATM)	XP_011541144.1:n.8685+5A>C
XM_011542844.3:c.7806+5A>C (ATM)	XP_011541146.1:n.7806+5A>C
XM_011542845.2:c.7542+5A>C (ATM)	XP_011541147.1:n.7542+5A>C
XM_017017247.1:c.904-14515T>G (C11orf65)	XP_016872736.1:n.904-14515T>G
XM_017017789.2:c.8850+5A>C (ATM)	XP_016873278.1:n.8850+5A>C
XM_017017790.2:c.8850+5A>C (ATM)	XP_016873279.1:n.8850+5A>C
NM_001330368.2:c.640+31041T>G (C11orf65)	NP_001317297.1:n.640+31041T>G
NM_001351110.2:c.695-19587T>G (C11orf65)	NP_001338039.1:n.695-19587T>G
NM_001351834.2:c.8850+5A>C (ATM)	NP_001338763.1:n.8850+5A>C
NM_000051.4:c.8850+5A>C (ATM) MANE Select	NP_000042.3:n.8850+5A>C
NR_147053.3:n.2299+36T>G (C11orf65)