Canonical Allele Identifier: CA166572

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 141840
• ClinVar RCV Id: RCV000130517 ; RCV000470886 ; RCV000994717
• dbSNP Id: rs587782049
• gnomAD v3: 11-108335866-G-C
• gnomAD v4: 11-108335866-G-C
• MyVariant Identifiers: chr11:g.108206593G>C (hg19) ; chr11:g.108335866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335866G>C , CM000673.2:g.108335866G>C	GRCh38
NC_000011.9:g.108206593G>C , CM000673.1:g.108206593G>C	GRCh37
NC_000011.8:g.107711803G>C	NCBI36
NG_009830.1:g.118035G>C , LRG_135:g.118035G>C
NG_054724.1:g.138967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8173G>C (ATM)	ENSP00000388058.2:p.Asp2725His
ENST00000713593.1:c.*7644G>C (ATM)	ENSP00000518889.1:n.*7644G>C
ENST00000278616.9:c.8173G>C (ATM)	ENSP00000278616.4:p.Asp2725His
ENST00000525056.2:n.2592G>C (ATM)
ENST00000638786.2:n.871G>C (ATM)
ENST00000682286.1:n.2930G>C (ATM)
ENST00000682302.1:n.2591G>C (ATM)
ENST00000683174.1:n.9657G>C (ATM)
ENST00000683524.1:n.3397G>C (ATM)
ENST00000684152.1:n.3589G>C (ATM)
ENST00000684180.1:n.647G>C (ATM)
ENST00000684447.1:n.4666G>C (ATM)
ENST00000527805.6:c.*3237G>C (ATM)	ENSP00000435747.2:n.*3237G>C
ENST00000675595.1:c.*3308G>C (ATM)	ENSP00000502563.1:n.*3308G>C
ENST00000675843.1:c.8173G>C (ATM) MANE Select	ENSP00000501606.1:p.Asp2725His
ENST00000278616.8:c.8173G>C (ATM)	ENSP00000278616.4:p.Asp2725His
ENST00000452508.6:c.8173G>C (ATM)	ENSP00000388058.2:p.Asp2725His
ENST00000524755.5:c.227-574C>G (C11orf65)
ENST00000524792.5:n.4388G>C (ATM)
ENST00000525056.1:n.370G>C (ATM)
ENST00000525729.5:c.641-26795C>G (C11orf65)	ENSP00000433395.1:n.641-26795C>G
ENST00000527531.5:c.*1197-574C>G (C11orf65)	ENSP00000431706.1:n.*1197-574C>G
ENST00000533979.5:n.385G>C (ATM)
ENST00000615746.4:c.*1197-574C>G (C11orf65)	ENSP00000483537.1:n.*1197-574C>G
NM_000051.3:c.8173G>C , LRG_135t1:c.8173G>C (ATM)	NP_000042.3:p.Asp2725His
XM_005271414.3:c.788-574C>G (C11orf65)	XP_005271471.1:n.788-574C>G
XM_005271415.3:c.732-574C>G (C11orf65)	XP_005271472.1:n.732-574C>G
XM_005271561.3:c.8173G>C (ATM)	XP_005271618.2:p.Asp2725His
XM_005271562.3:c.8173G>C (ATM)	XP_005271619.2:p.Asp2725His
XM_006718843.2:c.8173G>C (ATM)	XP_006718906.1:p.Asp2725His
XM_006718845.1:c.4129G>C (ATM)	XP_006718908.1:p.Asp1377His
XM_011542840.1:c.8173G>C (ATM)	XP_011541142.1:p.Asp2725His
XM_011542841.1:c.8173G>C (ATM)	XP_011541143.1:p.Asp2725His
XM_011542842.1:c.8008G>C (ATM)	XP_011541144.1:p.Asp2670His
XM_011542843.1:c.8173G>C (ATM)	XP_011541145.1:p.Asp2725His
XM_011542844.1:c.7129G>C (ATM)	XP_011541146.1:p.Asp2377His
XM_011542845.1:c.6865G>C (ATM)	XP_011541147.1:p.Asp2289His
XM_011542847.1:c.3244G>C (ATM)	XP_011541149.1:p.Asp1082His
NM_001330368.1:c.641-26795C>G (C11orf65)	NP_001317297.1:n.641-26795C>G
NM_001351110.1:c.695-574C>G (C11orf65)	NP_001338039.1:n.695-574C>G
NM_001351834.1:c.8173G>C (ATM)	NP_001338763.1:p.Asp2725His
NR_147053.2:n.2302-574C>G (C11orf65)
XM_005271414.4:c.788-574C>G (C11orf65)	XP_005271471.1:n.788-574C>G
XM_005271415.4:c.732-574C>G (C11orf65)	XP_005271472.1:n.732-574C>G
XM_005271562.5:c.8173G>C (ATM)	XP_005271619.2:p.Asp2725His
XM_006718843.4:c.8173G>C (ATM)	XP_006718906.1:p.Asp2725His
XM_006718845.2:c.4129G>C (ATM)	XP_006718908.1:p.Asp1377His
XM_011542840.3:c.8173G>C (ATM)	XP_011541142.1:p.Asp2725His
XM_011542842.3:c.8008G>C (ATM)	XP_011541144.1:p.Asp2670His
XM_011542843.2:c.8173G>C (ATM)	XP_011541145.1:p.Asp2725His
XM_011542844.3:c.7129G>C (ATM)	XP_011541146.1:p.Asp2377His
XM_011542845.2:c.6865G>C (ATM)	XP_011541147.1:p.Asp2289His
XM_017017789.2:c.8173G>C (ATM)	XP_016873278.1:p.Asp2725His
XM_017017790.2:c.8173G>C (ATM)	XP_016873279.1:p.Asp2725His
NM_001330368.2:c.641-26795C>G (C11orf65)	NP_001317297.1:n.641-26795C>G
NM_001351110.2:c.695-574C>G (C11orf65)	NP_001338039.1:n.695-574C>G
NM_001351834.2:c.8173G>C (ATM)	NP_001338763.1:p.Asp2725His
NM_000051.4:c.8173G>C (ATM) MANE Select	NP_000042.3:p.Asp2725His
NR_147053.3:n.2300-574C>G (C11orf65)