Canonical Allele Identifier: CA1998808384

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326129G= , CM000673.2:g.108326129G=	GRCh38
NC_000011.9:g.108196856G= , CM000673.1:g.108196856G=	GRCh37
NC_000011.8:g.107702066G=	NCBI36
NG_009830.1:g.108298G= , LRG_135:g.108298G=
NG_054724.1:g.148704C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6879G= (ATM)	ENSP00000388058.2:p.Leu2293=
ENST00000713593.1:c.*6350G= (ATM)	ENSP00000518889.1:n.*6350G=
ENST00000278616.9:c.6879G= (ATM)	ENSP00000278616.4:p.Leu2293=
ENST00000525056.2:n.1298G= (ATM)
ENST00000682286.1:n.1636G= (ATM)
ENST00000682302.1:n.1297G= (ATM)
ENST00000683174.1:n.8363G= (ATM)
ENST00000683524.1:n.2103G= (ATM)
ENST00000684152.1:n.2593G= (ATM)
ENST00000527805.6:c.*1943G= (ATM)	ENSP00000435747.2:n.*1943G=
ENST00000675595.1:c.*2014G= (ATM)	ENSP00000502563.1:n.*2014G=
ENST00000675843.1:c.6879G= (ATM) MANE Select	ENSP00000501606.1:p.Leu2293=
ENST00000278616.8:c.6879G= (ATM)	ENSP00000278616.4:p.Leu2293=
ENST00000452508.6:c.6879G= (ATM)	ENSP00000388058.2:p.Leu2293=
ENST00000524792.5:n.3094G= (ATM)
ENST00000525729.5:c.641-17058C= (C11orf65)	ENSP00000433395.1:n.641-17058C=
ENST00000533690.5:n.2283G= (ATM)
NM_000051.3:c.6879G= , LRG_135t1:c.6879G= (ATM)	NP_000042.3:p.Leu2293=
XM_005271561.3:c.6879G= (ATM)	XP_005271618.2:p.Leu2293=
XM_005271562.3:c.6879G= (ATM)	XP_005271619.2:p.Leu2293=
XM_006718843.2:c.6879G= (ATM)	XP_006718906.1:p.Leu2293=
XM_006718845.1:c.2835G= (ATM)	XP_006718908.1:p.Leu945=
XM_011542840.1:c.6879G= (ATM)	XP_011541142.1:p.Leu2293=
XM_011542841.1:c.6879G= (ATM)	XP_011541143.1:p.Leu2293=
XM_011542842.1:c.6714G= (ATM)	XP_011541144.1:p.Leu2238=
XM_011542843.1:c.6879G= (ATM)	XP_011541145.1:p.Leu2293=
XM_011542844.1:c.5835G= (ATM)	XP_011541146.1:p.Leu1945=
XM_011542845.1:c.5571G= (ATM)	XP_011541147.1:p.Leu1857=
XM_011542847.1:c.1950G= (ATM)	XP_011541149.1:p.Leu650=
NM_001330368.1:c.641-17058C= (C11orf65)	NP_001317297.1:n.641-17058C=
NM_001351110.1:c.*38+9091C= (C11orf65)	NP_001338039.1:n.*38+9091C=
NM_001351834.1:c.6879G= (ATM)	NP_001338763.1:p.Leu2293=
XM_005271562.5:c.6879G= (ATM)	XP_005271619.2:p.Leu2293=
XM_006718843.4:c.6879G= (ATM)	XP_006718906.1:p.Leu2293=
XM_006718845.2:c.2835G= (ATM)	XP_006718908.1:p.Leu945=
XM_011542840.3:c.6879G= (ATM)	XP_011541142.1:p.Leu2293=
XM_011542842.3:c.6714G= (ATM)	XP_011541144.1:p.Leu2238=
XM_011542843.2:c.6879G= (ATM)	XP_011541145.1:p.Leu2293=
XM_011542844.3:c.5835G= (ATM)	XP_011541146.1:p.Leu1945=
XM_011542845.2:c.5571G= (ATM)	XP_011541147.1:p.Leu1857=
XM_017017789.2:c.6879G= (ATM)	XP_016873278.1:p.Leu2293=
XM_017017790.2:c.6879G= (ATM)	XP_016873279.1:p.Leu2293=
NM_001330368.2:c.641-17058C= (C11orf65)	NP_001317297.1:n.641-17058C=
NM_001351110.2:c.*38+9091C= (C11orf65)	NP_001338039.1:n.*38+9091C=
NM_001351834.2:c.6879G= (ATM)	NP_001338763.1:p.Leu2293=
NM_000051.4:c.6879G= (ATM) MANE Select	NP_000042.3:p.Leu2293=