Canonical Allele Identifier: CA382560448

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330379G>A , CM000673.2:g.108330379G>A	GRCh38
NC_000011.9:g.108201106G>A , CM000673.1:g.108201106G>A	GRCh37
NC_000011.8:g.107706316G>A	NCBI36
NG_009830.1:g.112548G>A , LRG_135:g.112548G>A
NG_054724.1:g.144454C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.7473G>A (ATM) MANE Select	NP_000042.3:p.Trp2491Ter
ENST00000675843.1:c.7473G>A (ATM) MANE Select	ENSP00000501606.1:p.Trp2491Ter
NM_000051.3:c.7473G>A , LRG_135t1:c.7473G>A (ATM)	NP_000042.3:p.Trp2491Ter
NM_001330368.1:c.641-21308C>T (C11orf65)	NP_001317297.1:n.641-21308C>T
NM_001330368.2:c.641-21308C>T (C11orf65)	NP_001317297.1:n.641-21308C>T
NM_001351110.1:c.*38+4841C>T (C11orf65)	NP_001338039.1:n.*38+4841C>T
NM_001351110.2:c.*38+4841C>T (C11orf65)	NP_001338039.1:n.*38+4841C>T
NM_001351834.1:c.7473G>A (ATM)	NP_001338763.1:p.Trp2491Ter
NM_001351834.2:c.7473G>A (ATM)	NP_001338763.1:p.Trp2491Ter
ENST00000278616.8:c.7473G>A (ATM)	ENSP00000278616.4:p.Trp2491Ter
ENST00000278616.9:c.7473G>A (ATM)	ENSP00000278616.4:p.Trp2491Ter
ENST00000452508.6:c.7473G>A (ATM)	ENSP00000388058.2:p.Trp2491Ter
ENST00000452508.7:c.7473G>A (ATM)	ENSP00000388058.2:p.Trp2491Ter
ENST00000524792.5:n.3688G>A (ATM)
ENST00000525056.2:n.1892G>A (ATM)
ENST00000525537.3:n.430G>A (ATM)
ENST00000525729.5:c.641-21308C>T (C11orf65)	ENSP00000433395.1:n.641-21308C>T
ENST00000527805.6:c.*2537G>A (ATM)	ENSP00000435747.2:n.*2537G>A
ENST00000533690.5:n.2877G>A (ATM)
ENST00000638786.2:n.310G>A (ATM)
ENST00000675595.1:c.*2608G>A (ATM)	ENSP00000502563.1:n.*2608G>A
ENST00000682286.1:n.2230G>A (ATM)
ENST00000682302.1:n.1891G>A (ATM)
ENST00000683174.1:n.8957G>A (ATM)
ENST00000683524.1:n.2697G>A (ATM)
ENST00000684152.1:n.3187G>A (ATM)
ENST00000684447.1:n.1936G>A (ATM)
ENST00000713593.1:c.*6944G>A (ATM)	ENSP00000518889.1:n.*6944G>A
XM_005271561.3:c.7473G>A (ATM)	XP_005271618.2:p.Trp2491Ter
XM_005271562.3:c.7473G>A (ATM)	XP_005271619.2:p.Trp2491Ter
XM_005271562.5:c.7473G>A (ATM)	XP_005271619.2:p.Trp2491Ter
XM_006718843.2:c.7473G>A (ATM)	XP_006718906.1:p.Trp2491Ter
XM_006718843.4:c.7473G>A (ATM)	XP_006718906.1:p.Trp2491Ter
XM_006718845.1:c.3429G>A (ATM)	XP_006718908.1:p.Trp1143Ter
XM_006718845.2:c.3429G>A (ATM)	XP_006718908.1:p.Trp1143Ter
XM_011542840.1:c.7473G>A (ATM)	XP_011541142.1:p.Trp2491Ter
XM_011542840.3:c.7473G>A (ATM)	XP_011541142.1:p.Trp2491Ter
XM_011542841.1:c.7473G>A (ATM)	XP_011541143.1:p.Trp2491Ter
XM_011542842.1:c.7308G>A (ATM)	XP_011541144.1:p.Trp2436Ter
XM_011542842.3:c.7308G>A (ATM)	XP_011541144.1:p.Trp2436Ter
XM_011542843.1:c.7473G>A (ATM)	XP_011541145.1:p.Trp2491Ter
XM_011542843.2:c.7473G>A (ATM)	XP_011541145.1:p.Trp2491Ter
XM_011542844.1:c.6429G>A (ATM)	XP_011541146.1:p.Trp2143Ter
XM_011542844.3:c.6429G>A (ATM)	XP_011541146.1:p.Trp2143Ter
XM_011542845.1:c.6165G>A (ATM)	XP_011541147.1:p.Trp2055Ter
XM_011542845.2:c.6165G>A (ATM)	XP_011541147.1:p.Trp2055Ter
XM_011542847.1:c.2544G>A (ATM)	XP_011541149.1:p.Trp848Ter
XM_017017789.2:c.7473G>A (ATM)	XP_016873278.1:p.Trp2491Ter
XM_017017790.2:c.7473G>A (ATM)	XP_016873279.1:p.Trp2491Ter