Canonical Allele Identifier: CA382548641

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108312418G>A , CM000673.2:g.108312418G>A	GRCh38
NC_000011.9:g.108183145G>A , CM000673.1:g.108183145G>A	GRCh37
NC_000011.8:g.107688355G>A	NCBI36
NG_009830.1:g.94587G>A , LRG_135:g.94587G>A
NG_054724.1:g.162415C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.5926G>A (ATM) MANE Select	NP_000042.3:p.Ala1976Thr
ENST00000675843.1:c.5926G>A (ATM) MANE Select	ENSP00000501606.1:p.Ala1976Thr
NM_000051.3:c.5926G>A , LRG_135t1:c.5926G>A (ATM)	NP_000042.3:p.Ala1976Thr
NM_001330368.1:c.641-3347C>T (C11orf65)	NP_001317297.1:n.641-3347C>T
NM_001330368.2:c.641-3347C>T (C11orf65)	NP_001317297.1:n.641-3347C>T
NM_001351110.1:c.*39-3347C>T (C11orf65)	NP_001338039.1:n.*39-3347C>T
NM_001351110.2:c.*39-3347C>T (C11orf65)	NP_001338039.1:n.*39-3347C>T
NM_001351834.1:c.5926G>A (ATM)	NP_001338763.1:p.Ala1976Thr
NM_001351834.2:c.5926G>A (ATM)	NP_001338763.1:p.Ala1976Thr
ENST00000278616.8:c.5926G>A (ATM)	ENSP00000278616.4:p.Ala1976Thr
ENST00000278616.9:c.5926G>A (ATM)	ENSP00000278616.4:p.Ala1976Thr
ENST00000452508.6:c.5926G>A (ATM)	ENSP00000388058.2:p.Ala1976Thr
ENST00000452508.7:c.5926G>A (ATM)	ENSP00000388058.2:p.Ala1976Thr
ENST00000524792.5:n.2141G>A (ATM)
ENST00000525056.2:n.345G>A (ATM)
ENST00000525729.5:c.641-3347C>T (C11orf65)	ENSP00000433395.1:n.641-3347C>T
ENST00000527805.6:c.*990G>A (ATM)	ENSP00000435747.2:n.*990G>A
ENST00000529588.5:c.350G>A (ATM)
ENST00000532765.1:n.243G>A (ATM)
ENST00000533690.5:n.1330G>A (ATM)
ENST00000675595.1:c.*990G>A (ATM)	ENSP00000502563.1:n.*990G>A
ENST00000682286.1:n.683G>A (ATM)
ENST00000682302.1:n.344G>A (ATM)
ENST00000683174.1:n.7410G>A (ATM)
ENST00000683524.1:n.1150G>A (ATM)
ENST00000684152.1:n.1640G>A (ATM)
ENST00000713593.1:c.*5397G>A (ATM)	ENSP00000518889.1:n.*5397G>A
XM_005271561.3:c.5926G>A (ATM)	XP_005271618.2:p.Ala1976Thr
XM_005271562.3:c.5926G>A (ATM)	XP_005271619.2:p.Ala1976Thr
XM_005271562.5:c.5926G>A (ATM)	XP_005271619.2:p.Ala1976Thr
XM_006718843.2:c.5926G>A (ATM)	XP_006718906.1:p.Ala1976Thr
XM_006718843.4:c.5926G>A (ATM)	XP_006718906.1:p.Ala1976Thr
XM_006718845.1:c.1882G>A (ATM)	XP_006718908.1:p.Ala628Thr
XM_006718845.2:c.1882G>A (ATM)	XP_006718908.1:p.Ala628Thr
XM_011542840.1:c.5926G>A (ATM)	XP_011541142.1:p.Ala1976Thr
XM_011542840.3:c.5926G>A (ATM)	XP_011541142.1:p.Ala1976Thr
XM_011542841.1:c.5926G>A (ATM)	XP_011541143.1:p.Ala1976Thr
XM_011542842.1:c.5761G>A (ATM)	XP_011541144.1:p.Ala1921Thr
XM_011542842.3:c.5761G>A (ATM)	XP_011541144.1:p.Ala1921Thr
XM_011542843.1:c.5926G>A (ATM)	XP_011541145.1:p.Ala1976Thr
XM_011542843.2:c.5926G>A (ATM)	XP_011541145.1:p.Ala1976Thr
XM_011542844.1:c.4882G>A (ATM)	XP_011541146.1:p.Ala1628Thr
XM_011542844.3:c.4882G>A (ATM)	XP_011541146.1:p.Ala1628Thr
XM_011542845.1:c.4618G>A (ATM)	XP_011541147.1:p.Ala1540Thr
XM_011542845.2:c.4618G>A (ATM)	XP_011541147.1:p.Ala1540Thr
XM_011542847.1:c.997G>A (ATM)	XP_011541149.1:p.Ala333Thr
XM_017017789.2:c.5926G>A (ATM)	XP_016873278.1:p.Ala1976Thr
XM_017017790.2:c.5926G>A (ATM)	XP_016873279.1:p.Ala1976Thr
XM_017017791.1:c.5926G>A (ATM)	XP_016873280.1:p.Ala1976Thr
XR_002957150.1:n.6526G>A (ATM)