Canonical Allele Identifier: CA382561025

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108202671T>G (hg19) ; chr11:g.108331944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331944T>G , CM000673.2:g.108331944T>G	GRCh38
NC_000011.9:g.108202671T>G , CM000673.1:g.108202671T>G	GRCh37
NC_000011.8:g.107707881T>G	NCBI36
NG_009830.1:g.114113T>G , LRG_135:g.114113T>G
NG_054724.1:g.142889A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7695T>G (ATM)	ENSP00000388058.2:p.Asn2565Lys
ENST00000713593.1:c.*7166T>G (ATM)	ENSP00000518889.1:n.*7166T>G
ENST00000278616.9:c.7695T>G (ATM)	ENSP00000278616.4:p.Asn2565Lys
ENST00000525056.2:n.2114T>G (ATM)
ENST00000525537.3:n.652T>G (ATM)
ENST00000638786.2:n.532T>G (ATM)
ENST00000682286.1:n.2452T>G (ATM)
ENST00000682302.1:n.2113T>G (ATM)
ENST00000683174.1:n.9179T>G (ATM)
ENST00000683524.1:n.2919T>G (ATM)
ENST00000684152.1:n.3343+387T>G (ATM)
ENST00000684447.1:n.2479T>G (ATM)
ENST00000527805.6:c.*2759T>G (ATM)	ENSP00000435747.2:n.*2759T>G
ENST00000675595.1:c.*2830T>G (ATM)	ENSP00000502563.1:n.*2830T>G
ENST00000675843.1:c.7695T>G (ATM) MANE Select	ENSP00000501606.1:p.Asn2565Lys
ENST00000278616.8:c.7695T>G (ATM)	ENSP00000278616.4:p.Asn2565Lys
ENST00000452508.6:c.7695T>G (ATM)	ENSP00000388058.2:p.Asn2565Lys
ENST00000524755.5:c.300-377A>C (C11orf65)
ENST00000524792.5:n.3910T>G (ATM)
ENST00000525729.5:c.641-22873A>C (C11orf65)	ENSP00000433395.1:n.641-22873A>C
ENST00000527531.5:c.*1270-377A>C (C11orf65)	ENSP00000431706.1:n.*1270-377A>C
ENST00000533690.5:n.3099T>G (ATM)
ENST00000615746.4:c.*1270-377A>C (C11orf65)	ENSP00000483537.1:n.*1270-377A>C
NM_000051.3:c.7695T>G , LRG_135t1:c.7695T>G (ATM)	NP_000042.3:p.Asn2565Lys
XM_005271414.3:c.*39-377A>C (C11orf65)	XP_005271471.1:n.*39-377A>C
XM_005271415.3:c.805-377A>C (C11orf65)	XP_005271472.1:n.805-377A>C
XM_005271561.3:c.7695T>G (ATM)	XP_005271618.2:p.Asn2565Lys
XM_005271562.3:c.7695T>G (ATM)	XP_005271619.2:p.Asn2565Lys
XM_006718843.2:c.7695T>G (ATM)	XP_006718906.1:p.Asn2565Lys
XM_006718845.1:c.3651T>G (ATM)	XP_006718908.1:p.Asn1217Lys
XM_011542840.1:c.7695T>G (ATM)	XP_011541142.1:p.Asn2565Lys
XM_011542841.1:c.7695T>G (ATM)	XP_011541143.1:p.Asn2565Lys
XM_011542842.1:c.7530T>G (ATM)	XP_011541144.1:p.Asn2510Lys
XM_011542843.1:c.7695T>G (ATM)	XP_011541145.1:p.Asn2565Lys
XM_011542844.1:c.6651T>G (ATM)	XP_011541146.1:p.Asn2217Lys
XM_011542845.1:c.6387T>G (ATM)	XP_011541147.1:p.Asn2129Lys
XM_011542847.1:c.2766T>G (ATM)	XP_011541149.1:p.Asn922Lys
NM_001330368.1:c.641-22873A>C (C11orf65)	NP_001317297.1:n.641-22873A>C
NM_001351110.1:c.*38+3276A>C (C11orf65)	NP_001338039.1:n.*38+3276A>C
NM_001351834.1:c.7695T>G (ATM)	NP_001338763.1:p.Asn2565Lys
NR_147053.2:n.2375-377A>C (C11orf65)
XM_005271414.4:c.*39-377A>C (C11orf65)	XP_005271471.1:n.*39-377A>C
XM_005271415.4:c.805-377A>C (C11orf65)	XP_005271472.1:n.805-377A>C
XM_005271562.5:c.7695T>G (ATM)	XP_005271619.2:p.Asn2565Lys
XM_006718843.4:c.7695T>G (ATM)	XP_006718906.1:p.Asn2565Lys
XM_006718845.2:c.3651T>G (ATM)	XP_006718908.1:p.Asn1217Lys
XM_011542840.3:c.7695T>G (ATM)	XP_011541142.1:p.Asn2565Lys
XM_011542842.3:c.7530T>G (ATM)	XP_011541144.1:p.Asn2510Lys
XM_011542843.2:c.7695T>G (ATM)	XP_011541145.1:p.Asn2565Lys
XM_011542844.3:c.6651T>G (ATM)	XP_011541146.1:p.Asn2217Lys
XM_011542845.2:c.6387T>G (ATM)	XP_011541147.1:p.Asn2129Lys
XM_017017789.2:c.7695T>G (ATM)	XP_016873278.1:p.Asn2565Lys
XM_017017790.2:c.7695T>G (ATM)	XP_016873279.1:p.Asn2565Lys
NM_001330368.2:c.641-22873A>C (C11orf65)	NP_001317297.1:n.641-22873A>C
NM_001351110.2:c.*38+3276A>C (C11orf65)	NP_001338039.1:n.*38+3276A>C
NM_001351834.2:c.7695T>G (ATM)	NP_001338763.1:p.Asn2565Lys
NM_000051.4:c.7695T>G (ATM) MANE Select	NP_000042.3:p.Asn2565Lys
NR_147053.3:n.2373-377A>C (C11orf65)