Canonical Allele Identifier: CA1998808473

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326195G= , CM000673.2:g.108326195G=	GRCh38
NC_000011.9:g.108196922G= , CM000673.1:g.108196922G=	GRCh37
NC_000011.8:g.107702132G=	NCBI36
NG_009830.1:g.108364G= , LRG_135:g.108364G=
NG_054724.1:g.148638C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6945G= (ATM)	ENSP00000388058.2:p.Met2315=
ENST00000713593.1:c.*6416G= (ATM)	ENSP00000518889.1:n.*6416G=
ENST00000278616.9:c.6945G= (ATM)	ENSP00000278616.4:p.Met2315=
ENST00000525056.2:n.1364G= (ATM)
ENST00000682286.1:n.1702G= (ATM)
ENST00000682302.1:n.1363G= (ATM)
ENST00000683174.1:n.8429G= (ATM)
ENST00000683524.1:n.2169G= (ATM)
ENST00000684152.1:n.2659G= (ATM)
ENST00000527805.6:c.*2009G= (ATM)	ENSP00000435747.2:n.*2009G=
ENST00000675595.1:c.*2080G= (ATM)	ENSP00000502563.1:n.*2080G=
ENST00000675843.1:c.6945G= (ATM) MANE Select	ENSP00000501606.1:p.Met2315=
ENST00000278616.8:c.6945G= (ATM)	ENSP00000278616.4:p.Met2315=
ENST00000452508.6:c.6945G= (ATM)	ENSP00000388058.2:p.Met2315=
ENST00000524792.5:n.3160G= (ATM)
ENST00000525729.5:c.641-17124C= (C11orf65)	ENSP00000433395.1:n.641-17124C=
ENST00000533690.5:n.2349G= (ATM)
NM_000051.3:c.6945G= , LRG_135t1:c.6945G= (ATM)	NP_000042.3:p.Met2315=
XM_005271561.3:c.6945G= (ATM)	XP_005271618.2:p.Met2315=
XM_005271562.3:c.6945G= (ATM)	XP_005271619.2:p.Met2315=
XM_006718843.2:c.6945G= (ATM)	XP_006718906.1:p.Met2315=
XM_006718845.1:c.2901G= (ATM)	XP_006718908.1:p.Met967=
XM_011542840.1:c.6945G= (ATM)	XP_011541142.1:p.Met2315=
XM_011542841.1:c.6945G= (ATM)	XP_011541143.1:p.Met2315=
XM_011542842.1:c.6780G= (ATM)	XP_011541144.1:p.Met2260=
XM_011542843.1:c.6945G= (ATM)	XP_011541145.1:p.Met2315=
XM_011542844.1:c.5901G= (ATM)	XP_011541146.1:p.Met1967=
XM_011542845.1:c.5637G= (ATM)	XP_011541147.1:p.Met1879=
XM_011542847.1:c.2016G= (ATM)	XP_011541149.1:p.Met672=
NM_001330368.1:c.641-17124C= (C11orf65)	NP_001317297.1:n.641-17124C=
NM_001351110.1:c.*38+9025C= (C11orf65)	NP_001338039.1:n.*38+9025C=
NM_001351834.1:c.6945G= (ATM)	NP_001338763.1:p.Met2315=
XM_005271562.5:c.6945G= (ATM)	XP_005271619.2:p.Met2315=
XM_006718843.4:c.6945G= (ATM)	XP_006718906.1:p.Met2315=
XM_006718845.2:c.2901G= (ATM)	XP_006718908.1:p.Met967=
XM_011542840.3:c.6945G= (ATM)	XP_011541142.1:p.Met2315=
XM_011542842.3:c.6780G= (ATM)	XP_011541144.1:p.Met2260=
XM_011542843.2:c.6945G= (ATM)	XP_011541145.1:p.Met2315=
XM_011542844.3:c.5901G= (ATM)	XP_011541146.1:p.Met1967=
XM_011542845.2:c.5637G= (ATM)	XP_011541147.1:p.Met1879=
XM_017017789.2:c.6945G= (ATM)	XP_016873278.1:p.Met2315=
XM_017017790.2:c.6945G= (ATM)	XP_016873279.1:p.Met2315=
NM_001330368.2:c.641-17124C= (C11orf65)	NP_001317297.1:n.641-17124C=
NM_001351110.2:c.*38+9025C= (C11orf65)	NP_001338039.1:n.*38+9025C=
NM_001351834.2:c.6945G= (ATM)	NP_001338763.1:p.Met2315=
NM_000051.4:c.6945G= (ATM) MANE Select	NP_000042.3:p.Met2315=