Canonical Allele Identifier: CA287012

Gene: ATM C11orf65

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335849G>A , CM000673.2:g.108335849G>A	GRCh38
NC_000011.9:g.108206576G>A , CM000673.1:g.108206576G>A	GRCh37
NC_000011.8:g.107711786G>A	NCBI36
NG_009830.1:g.118018G>A , LRG_135:g.118018G>A
NG_054724.1:g.138984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8156G>A (ATM)	ENSP00000388058.2:p.Arg2719His
ENST00000713593.1:c.*7627G>A (ATM)	ENSP00000518889.1:n.*7627G>A
ENST00000278616.9:c.8156G>A (ATM)	ENSP00000278616.4:p.Arg2719His
ENST00000525056.2:n.2575G>A (ATM)
ENST00000638786.2:n.854G>A (ATM)
ENST00000682286.1:n.2913G>A (ATM)
ENST00000682302.1:n.2574G>A (ATM)
ENST00000683174.1:n.9640G>A (ATM)
ENST00000683524.1:n.3380G>A (ATM)
ENST00000684152.1:n.3572G>A (ATM)
ENST00000684180.1:n.630G>A (ATM)
ENST00000684447.1:n.4649G>A (ATM)
ENST00000527805.6:c.*3220G>A (ATM)	ENSP00000435747.2:n.*3220G>A
ENST00000675595.1:c.*3291G>A (ATM)	ENSP00000502563.1:n.*3291G>A
ENST00000675843.1:c.8156G>A (ATM) MANE Select	ENSP00000501606.1:p.Arg2719His
ENST00000278616.8:c.8156G>A (ATM)	ENSP00000278616.4:p.Arg2719His
ENST00000452508.6:c.8156G>A (ATM)	ENSP00000388058.2:p.Arg2719His
ENST00000524755.5:c.227-557C>T (C11orf65)
ENST00000524792.5:n.4371G>A (ATM)
ENST00000525056.1:n.353G>A (ATM)
ENST00000525729.5:c.641-26778C>T (C11orf65)	ENSP00000433395.1:n.641-26778C>T
ENST00000527531.5:c.*1197-557C>T (C11orf65)	ENSP00000431706.1:n.*1197-557C>T
ENST00000533979.5:n.368G>A (ATM)
ENST00000615746.4:c.*1197-557C>T (C11orf65)	ENSP00000483537.1:n.*1197-557C>T
NM_000051.3:c.8156G>A , LRG_135t1:c.8156G>A (ATM)	NP_000042.3:p.Arg2719His
XM_005271414.3:c.788-557C>T (C11orf65)	XP_005271471.1:n.788-557C>T
XM_005271415.3:c.732-557C>T (C11orf65)	XP_005271472.1:n.732-557C>T
XM_005271561.3:c.8156G>A (ATM)	XP_005271618.2:p.Arg2719His
XM_005271562.3:c.8156G>A (ATM)	XP_005271619.2:p.Arg2719His
XM_006718843.2:c.8156G>A (ATM)	XP_006718906.1:p.Arg2719His
XM_006718845.1:c.4112G>A (ATM)	XP_006718908.1:p.Arg1371His
XM_011542840.1:c.8156G>A (ATM)	XP_011541142.1:p.Arg2719His
XM_011542841.1:c.8156G>A (ATM)	XP_011541143.1:p.Arg2719His
XM_011542842.1:c.7991G>A (ATM)	XP_011541144.1:p.Arg2664His
XM_011542843.1:c.8156G>A (ATM)	XP_011541145.1:p.Arg2719His
XM_011542844.1:c.7112G>A (ATM)	XP_011541146.1:p.Arg2371His
XM_011542845.1:c.6848G>A (ATM)	XP_011541147.1:p.Arg2283His
XM_011542847.1:c.3227G>A (ATM)	XP_011541149.1:p.Arg1076His
NM_001330368.1:c.641-26778C>T (C11orf65)	NP_001317297.1:n.641-26778C>T
NM_001351110.1:c.695-557C>T (C11orf65)	NP_001338039.1:n.695-557C>T
NM_001351834.1:c.8156G>A (ATM)	NP_001338763.1:p.Arg2719His
NR_147053.2:n.2302-557C>T (C11orf65)
XM_005271414.4:c.788-557C>T (C11orf65)	XP_005271471.1:n.788-557C>T
XM_005271415.4:c.732-557C>T (C11orf65)	XP_005271472.1:n.732-557C>T
XM_005271562.5:c.8156G>A (ATM)	XP_005271619.2:p.Arg2719His
XM_006718843.4:c.8156G>A (ATM)	XP_006718906.1:p.Arg2719His
XM_006718845.2:c.4112G>A (ATM)	XP_006718908.1:p.Arg1371His
XM_011542840.3:c.8156G>A (ATM)	XP_011541142.1:p.Arg2719His
XM_011542842.3:c.7991G>A (ATM)	XP_011541144.1:p.Arg2664His
XM_011542843.2:c.8156G>A (ATM)	XP_011541145.1:p.Arg2719His
XM_011542844.3:c.7112G>A (ATM)	XP_011541146.1:p.Arg2371His
XM_011542845.2:c.6848G>A (ATM)	XP_011541147.1:p.Arg2283His
XM_017017789.2:c.8156G>A (ATM)	XP_016873278.1:p.Arg2719His
XM_017017790.2:c.8156G>A (ATM)	XP_016873279.1:p.Arg2719His
NM_001330368.2:c.641-26778C>T (C11orf65)	NP_001317297.1:n.641-26778C>T
NM_001351110.2:c.695-557C>T (C11orf65)	NP_001338039.1:n.695-557C>T
NM_001351834.2:c.8156G>A (ATM)	NP_001338763.1:p.Arg2719His
NM_000051.4:c.8156G>A (ATM) MANE Select	NP_000042.3:p.Arg2719His
NR_147053.3:n.2300-557C>T (C11orf65)