Canonical Allele Identifier: CA382524493

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 941781
• ClinVar RCV Id: RCV001211633
• dbSNP Id: rs1555142918
• gnomAD v4: 11-108353882-T-C
• MyVariant Identifiers: chr11:g.108224609T>C (hg19) ; chr11:g.108353882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353882T>C , CM000673.2:g.108353882T>C	GRCh38
NC_000011.9:g.108224609T>C , CM000673.1:g.108224609T>C	GRCh37
NC_000011.8:g.107729819T>C	NCBI36
NG_009830.1:g.136051T>C , LRG_135:g.136051T>C
NG_054724.1:g.120951A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8786+2T>C (ATM)	ENSP00000388058.2:n.8786+2T>C
ENST00000713593.1:c.*8257+2T>C (ATM)	ENSP00000518889.1:n.*8257+2T>C
ENST00000278616.9:c.8786+2T>C (ATM)	ENSP00000278616.4:n.8786+2T>C
ENST00000638786.2:n.1484+2T>C (ATM)
ENST00000682286.1:n.3543+2T>C (ATM)
ENST00000682302.1:n.3204+2T>C (ATM)
ENST00000683174.1:n.10270+2T>C (ATM)
ENST00000683524.1:n.4010+2T>C (ATM)
ENST00000684152.1:n.4202+2T>C (ATM)
ENST00000684180.1:n.1260+2T>C (ATM)
ENST00000684447.1:n.5279+2T>C (ATM)
ENST00000527805.6:c.*3850+2T>C (ATM)	ENSP00000435747.2:n.*3850+2T>C
ENST00000675595.1:c.*3921+2T>C (ATM)	ENSP00000502563.1:n.*3921+2T>C
ENST00000675843.1:c.8786+2T>C (ATM) MANE Select	ENSP00000501606.1:n.8786+2T>C
ENST00000278616.8:c.8786+2T>C (ATM)	ENSP00000278616.4:n.8786+2T>C
ENST00000452508.6:c.8786+2T>C (ATM)	ENSP00000388058.2:n.8786+2T>C
ENST00000524755.5:c.227-18590A>G (C11orf65)
ENST00000524792.5:n.5001+2T>C (ATM)
ENST00000525178.5:n.274+2T>C (ATM)
ENST00000525729.5:c.640+32038A>G (C11orf65)	ENSP00000433395.1:n.640+32038A>G
ENST00000526725.1:n.272-13518A>G (C11orf65)
ENST00000527181.1:n.125+2T>C (ATM)
ENST00000527531.5:c.*1196+1033A>G (C11orf65)	ENSP00000431706.1:n.*1196+1033A>G
ENST00000615746.4:c.*1196+1033A>G (C11orf65)	ENSP00000483537.1:n.*1196+1033A>G
NM_000051.3:c.8786+2T>C , LRG_135t1:c.8786+2T>C (ATM)	NP_000042.3:n.8786+2T>C
XM_005271414.3:c.788-18590A>G (C11orf65)	XP_005271471.1:n.788-18590A>G
XM_005271415.3:c.732-18590A>G (C11orf65)	XP_005271472.1:n.732-18590A>G
XM_005271561.3:c.8786+2T>C (ATM)	XP_005271618.2:n.8786+2T>C
XM_005271562.3:c.8786+2T>C (ATM)	XP_005271619.2:n.8786+2T>C
XM_006718843.2:c.8786+2T>C (ATM)	XP_006718906.1:n.8786+2T>C
XM_006718845.1:c.4742+2T>C (ATM)	XP_006718908.1:n.4742+2T>C
XM_011542640.1:c.788-13518A>G (C11orf65)	XP_011540942.1:n.788-13518A>G
XM_011542642.1:c.732-4809A>G (C11orf65)	XP_011540944.1:n.732-4809A>G
XM_011542643.1:c.732-13518A>G (C11orf65)	XP_011540945.1:n.732-13518A>G
XM_011542840.1:c.8786+2T>C (ATM)	XP_011541142.1:n.8786+2T>C
XM_011542841.1:c.8786+2T>C (ATM)	XP_011541143.1:n.8786+2T>C
XM_011542842.1:c.8621+2T>C (ATM)	XP_011541144.1:n.8621+2T>C
XM_011542844.1:c.7742+2T>C (ATM)	XP_011541146.1:n.7742+2T>C
XM_011542845.1:c.7478+2T>C (ATM)	XP_011541147.1:n.7478+2T>C
XM_011542847.1:c.3857+2T>C (ATM)	XP_011541149.1:n.3857+2T>C
NM_001330368.1:c.640+32038A>G (C11orf65)	NP_001317297.1:n.640+32038A>G
NM_001351110.1:c.695-18590A>G (C11orf65)	NP_001338039.1:n.695-18590A>G
NM_001351834.1:c.8786+2T>C (ATM)	NP_001338763.1:n.8786+2T>C
NR_147053.2:n.2301+1033A>G (C11orf65)
XM_005271414.4:c.788-18590A>G (C11orf65)	XP_005271471.1:n.788-18590A>G
XM_005271415.4:c.732-18590A>G (C11orf65)	XP_005271472.1:n.732-18590A>G
XM_005271562.5:c.8786+2T>C (ATM)	XP_005271619.2:n.8786+2T>C
XM_006718843.4:c.8786+2T>C (ATM)	XP_006718906.1:n.8786+2T>C
XM_006718845.2:c.4742+2T>C (ATM)	XP_006718908.1:n.4742+2T>C
XM_011542640.2:c.788-13518A>G (C11orf65)	XP_011540942.1:n.788-13518A>G
XM_011542643.2:c.732-13518A>G (C11orf65)	XP_011540945.1:n.732-13518A>G
XM_011542840.3:c.8786+2T>C (ATM)	XP_011541142.1:n.8786+2T>C
XM_011542842.3:c.8621+2T>C (ATM)	XP_011541144.1:n.8621+2T>C
XM_011542844.3:c.7742+2T>C (ATM)	XP_011541146.1:n.7742+2T>C
XM_011542845.2:c.7478+2T>C (ATM)	XP_011541147.1:n.7478+2T>C
XM_017017247.1:c.904-13518A>G (C11orf65)	XP_016872736.1:n.904-13518A>G
XM_017017789.2:c.8786+2T>C (ATM)	XP_016873278.1:n.8786+2T>C
XM_017017790.2:c.8786+2T>C (ATM)	XP_016873279.1:n.8786+2T>C
NM_001330368.2:c.640+32038A>G (C11orf65)	NP_001317297.1:n.640+32038A>G
NM_001351110.2:c.695-18590A>G (C11orf65)	NP_001338039.1:n.695-18590A>G
NM_001351834.2:c.8786+2T>C (ATM)	NP_001338763.1:n.8786+2T>C
NM_000051.4:c.8786+2T>C (ATM) MANE Select	NP_000042.3:n.8786+2T>C
NR_147053.3:n.2299+1033A>G (C11orf65)