Canonical Allele Identifier: CA6266205

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 574618
• ClinVar RCV Id: RCV000696595 ; RCV001026894 ; RCV001798962 ; RCV003480779
• dbSNP Id: rs759392666
• ExAC: 11:108203571 G / C
• gnomAD v2: 11-108203571-G-C
• gnomAD v4: 11-108332844-G-C
• MyVariant Identifiers: chr11:g.108203571G>C (hg19) ; chr11:g.108332844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332844G>C , CM000673.2:g.108332844G>C	GRCh38
NC_000011.9:g.108203571G>C , CM000673.1:g.108203571G>C	GRCh37
NC_000011.8:g.107708781G>C	NCBI36
NG_009830.1:g.115013G>C , LRG_135:g.115013G>C
NG_054724.1:g.141989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7871G>C (ATM)	ENSP00000388058.2:p.Cys2624Ser
ENST00000713593.1:c.*7342G>C (ATM)	ENSP00000518889.1:n.*7342G>C
ENST00000278616.9:c.7871G>C (ATM)	ENSP00000278616.4:p.Cys2624Ser
ENST00000525056.2:n.2290G>C (ATM)
ENST00000525537.3:n.1552G>C (ATM)
ENST00000638786.2:n.625+807G>C (ATM)
ENST00000682286.1:n.2628G>C (ATM)
ENST00000682302.1:n.2289G>C (ATM)
ENST00000683174.1:n.9355G>C (ATM)
ENST00000683524.1:n.3095G>C (ATM)
ENST00000684152.1:n.3344-1042G>C (ATM)
ENST00000684180.1:n.345G>C (ATM)
ENST00000684447.1:n.3379G>C (ATM)
ENST00000527805.6:c.*2935G>C (ATM)	ENSP00000435747.2:n.*2935G>C
ENST00000675595.1:c.*3006G>C (ATM)	ENSP00000502563.1:n.*3006G>C
ENST00000675843.1:c.7871G>C (ATM) MANE Select	ENSP00000501606.1:p.Cys2624Ser
ENST00000278616.8:c.7871G>C (ATM)	ENSP00000278616.4:p.Cys2624Ser
ENST00000452508.6:c.7871G>C (ATM)	ENSP00000388058.2:p.Cys2624Ser
ENST00000524755.5:c.300-1277C>G (C11orf65)
ENST00000524792.5:n.4086G>C (ATM)
ENST00000525056.1:n.68G>C (ATM)
ENST00000525729.5:c.641-23773C>G (C11orf65)	ENSP00000433395.1:n.641-23773C>G
ENST00000527531.5:c.*1270-1277C>G (C11orf65)	ENSP00000431706.1:n.*1270-1277C>G
ENST00000533690.5:n.3275G>C (ATM)
ENST00000533979.5:n.83G>C (ATM)
ENST00000615746.4:c.*1270-1277C>G (C11orf65)	ENSP00000483537.1:n.*1270-1277C>G
NM_000051.3:c.7871G>C , LRG_135t1:c.7871G>C (ATM)	NP_000042.3:p.Cys2624Ser
XM_005271414.3:c.*39-1277C>G (C11orf65)	XP_005271471.1:n.*39-1277C>G
XM_005271415.3:c.805-1277C>G (C11orf65)	XP_005271472.1:n.805-1277C>G
XM_005271561.3:c.7871G>C (ATM)	XP_005271618.2:p.Cys2624Ser
XM_005271562.3:c.7871G>C (ATM)	XP_005271619.2:p.Cys2624Ser
XM_006718843.2:c.7871G>C (ATM)	XP_006718906.1:p.Cys2624Ser
XM_006718845.1:c.3827G>C (ATM)	XP_006718908.1:p.Cys1276Ser
XM_011542840.1:c.7871G>C (ATM)	XP_011541142.1:p.Cys2624Ser
XM_011542841.1:c.7871G>C (ATM)	XP_011541143.1:p.Cys2624Ser
XM_011542842.1:c.7706G>C (ATM)	XP_011541144.1:p.Cys2569Ser
XM_011542843.1:c.7871G>C (ATM)	XP_011541145.1:p.Cys2624Ser
XM_011542844.1:c.6827G>C (ATM)	XP_011541146.1:p.Cys2276Ser
XM_011542845.1:c.6563G>C (ATM)	XP_011541147.1:p.Cys2188Ser
XM_011542847.1:c.2942G>C (ATM)	XP_011541149.1:p.Cys981Ser
NM_001330368.1:c.641-23773C>G (C11orf65)	NP_001317297.1:n.641-23773C>G
NM_001351110.1:c.*38+2376C>G (C11orf65)	NP_001338039.1:n.*38+2376C>G
NM_001351834.1:c.7871G>C (ATM)	NP_001338763.1:p.Cys2624Ser
NR_147053.2:n.2375-1277C>G (C11orf65)
XM_005271414.4:c.*39-1277C>G (C11orf65)	XP_005271471.1:n.*39-1277C>G
XM_005271415.4:c.805-1277C>G (C11orf65)	XP_005271472.1:n.805-1277C>G
XM_005271562.5:c.7871G>C (ATM)	XP_005271619.2:p.Cys2624Ser
XM_006718843.4:c.7871G>C (ATM)	XP_006718906.1:p.Cys2624Ser
XM_006718845.2:c.3827G>C (ATM)	XP_006718908.1:p.Cys1276Ser
XM_011542840.3:c.7871G>C (ATM)	XP_011541142.1:p.Cys2624Ser
XM_011542842.3:c.7706G>C (ATM)	XP_011541144.1:p.Cys2569Ser
XM_011542843.2:c.7871G>C (ATM)	XP_011541145.1:p.Cys2624Ser
XM_011542844.3:c.6827G>C (ATM)	XP_011541146.1:p.Cys2276Ser
XM_011542845.2:c.6563G>C (ATM)	XP_011541147.1:p.Cys2188Ser
XM_017017789.2:c.7871G>C (ATM)	XP_016873278.1:p.Cys2624Ser
XM_017017790.2:c.7871G>C (ATM)	XP_016873279.1:p.Cys2624Ser
NM_001330368.2:c.641-23773C>G (C11orf65)	NP_001317297.1:n.641-23773C>G
NM_001351110.2:c.*38+2376C>G (C11orf65)	NP_001338039.1:n.*38+2376C>G
NM_001351834.2:c.7871G>C (ATM)	NP_001338763.1:p.Cys2624Ser
NM_000051.4:c.7871G>C (ATM) MANE Select	NP_000042.3:p.Cys2624Ser
NR_147053.3:n.2373-1277C>G (C11orf65)