Canonical Allele Identifier: CA658683776

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 490726
• ClinVar RCV Id: RCV000582430 ; RCV001860069
• dbSNP Id: rs1555128173
• MyVariant Identifiers: chr11:g.108206556C>G (hg19) ; chr11:g.108335829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335829C>G , CM000673.2:g.108335829C>G	GRCh38
NC_000011.9:g.108206556C>G , CM000673.1:g.108206556C>G	GRCh37
NC_000011.8:g.107711766C>G	NCBI36
NG_009830.1:g.117998C>G , LRG_135:g.117998C>G
NG_054724.1:g.139004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8152-16C>G (ATM)	ENSP00000388058.2:n.8152-16C>G
ENST00000713593.1:c.*7623-16C>G (ATM)	ENSP00000518889.1:n.*7623-16C>G
ENST00000278616.9:c.8152-16C>G (ATM)	ENSP00000278616.4:n.8152-16C>G
ENST00000525056.2:n.2571-16C>G (ATM)
ENST00000638786.2:n.850-16C>G (ATM)
ENST00000682286.1:n.2909-16C>G (ATM)
ENST00000682302.1:n.2570-16C>G (ATM)
ENST00000683174.1:n.9636-16C>G (ATM)
ENST00000683524.1:n.3376-16C>G (ATM)
ENST00000684152.1:n.3568-16C>G (ATM)
ENST00000684180.1:n.626-16C>G (ATM)
ENST00000684447.1:n.4645-16C>G (ATM)
ENST00000527805.6:c.*3216-16C>G (ATM)	ENSP00000435747.2:n.*3216-16C>G
ENST00000675595.1:c.*3287-16C>G (ATM)	ENSP00000502563.1:n.*3287-16C>G
ENST00000675843.1:c.8152-16C>G (ATM) MANE Select	ENSP00000501606.1:n.8152-16C>G
ENST00000278616.8:c.8152-16C>G (ATM)	ENSP00000278616.4:n.8152-16C>G
ENST00000452508.6:c.8152-16C>G (ATM)	ENSP00000388058.2:n.8152-16C>G
ENST00000524755.5:c.227-537G>C (C11orf65)
ENST00000524792.5:n.4367-16C>G (ATM)
ENST00000525056.1:n.349-16C>G (ATM)
ENST00000525729.5:c.641-26758G>C (C11orf65)	ENSP00000433395.1:n.641-26758G>C
ENST00000527531.5:c.*1197-537G>C (C11orf65)	ENSP00000431706.1:n.*1197-537G>C
ENST00000533979.5:n.364-16C>G (ATM)
ENST00000615746.4:c.*1197-537G>C (C11orf65)	ENSP00000483537.1:n.*1197-537G>C
NM_000051.3:c.8152-16C>G , LRG_135t1:c.8152-16C>G (ATM)	NP_000042.3:n.8152-16C>G
XM_005271414.3:c.788-537G>C (C11orf65)	XP_005271471.1:n.788-537G>C
XM_005271415.3:c.732-537G>C (C11orf65)	XP_005271472.1:n.732-537G>C
XM_005271561.3:c.8152-16C>G (ATM)	XP_005271618.2:n.8152-16C>G
XM_005271562.3:c.8152-16C>G (ATM)	XP_005271619.2:n.8152-16C>G
XM_006718843.2:c.8152-16C>G (ATM)	XP_006718906.1:n.8152-16C>G
XM_006718845.1:c.4108-16C>G (ATM)	XP_006718908.1:n.4108-16C>G
XM_011542840.1:c.8152-16C>G (ATM)	XP_011541142.1:n.8152-16C>G
XM_011542841.1:c.8152-16C>G (ATM)	XP_011541143.1:n.8152-16C>G
XM_011542842.1:c.7987-16C>G (ATM)	XP_011541144.1:n.7987-16C>G
XM_011542843.1:c.8152-16C>G (ATM)	XP_011541145.1:n.8152-16C>G
XM_011542844.1:c.7108-16C>G (ATM)	XP_011541146.1:n.7108-16C>G
XM_011542845.1:c.6844-16C>G (ATM)	XP_011541147.1:n.6844-16C>G
XM_011542847.1:c.3223-16C>G (ATM)	XP_011541149.1:n.3223-16C>G
NM_001330368.1:c.641-26758G>C (C11orf65)	NP_001317297.1:n.641-26758G>C
NM_001351110.1:c.695-537G>C (C11orf65)	NP_001338039.1:n.695-537G>C
NM_001351834.1:c.8152-16C>G (ATM)	NP_001338763.1:n.8152-16C>G
NR_147053.2:n.2302-537G>C (C11orf65)
XM_005271414.4:c.788-537G>C (C11orf65)	XP_005271471.1:n.788-537G>C
XM_005271415.4:c.732-537G>C (C11orf65)	XP_005271472.1:n.732-537G>C
XM_005271562.5:c.8152-16C>G (ATM)	XP_005271619.2:n.8152-16C>G
XM_006718843.4:c.8152-16C>G (ATM)	XP_006718906.1:n.8152-16C>G
XM_006718845.2:c.4108-16C>G (ATM)	XP_006718908.1:n.4108-16C>G
XM_011542840.3:c.8152-16C>G (ATM)	XP_011541142.1:n.8152-16C>G
XM_011542842.3:c.7987-16C>G (ATM)	XP_011541144.1:n.7987-16C>G
XM_011542843.2:c.8152-16C>G (ATM)	XP_011541145.1:n.8152-16C>G
XM_011542844.3:c.7108-16C>G (ATM)	XP_011541146.1:n.7108-16C>G
XM_011542845.2:c.6844-16C>G (ATM)	XP_011541147.1:n.6844-16C>G
XM_017017789.2:c.8152-16C>G (ATM)	XP_016873278.1:n.8152-16C>G
XM_017017790.2:c.8152-16C>G (ATM)	XP_016873279.1:n.8152-16C>G
NM_001330368.2:c.641-26758G>C (C11orf65)	NP_001317297.1:n.641-26758G>C
NM_001351110.2:c.695-537G>C (C11orf65)	NP_001338039.1:n.695-537G>C
NM_001351834.2:c.8152-16C>G (ATM)	NP_001338763.1:n.8152-16C>G
NM_000051.4:c.8152-16C>G (ATM) MANE Select	NP_000042.3:n.8152-16C>G
NR_147053.3:n.2300-537G>C (C11orf65)