Canonical Allele Identifier: CA382559549

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329100T>A , CM000673.2:g.108329100T>A	GRCh38
NC_000011.9:g.108199827T>A , CM000673.1:g.108199827T>A	GRCh37
NC_000011.8:g.107705037T>A	NCBI36
NG_009830.1:g.111269T>A , LRG_135:g.111269T>A
NG_054724.1:g.145733A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.7169T>A (ATM) MANE Select	NP_000042.3:p.Leu2390Ter
ENST00000675843.1:c.7169T>A (ATM) MANE Select	ENSP00000501606.1:p.Leu2390Ter
NM_000051.3:c.7169T>A , LRG_135t1:c.7169T>A (ATM)	NP_000042.3:p.Leu2390Ter
NM_001330368.1:c.641-20029A>T (C11orf65)	NP_001317297.1:n.641-20029A>T
NM_001330368.2:c.641-20029A>T (C11orf65)	NP_001317297.1:n.641-20029A>T
NM_001351110.1:c.*38+6120A>T (C11orf65)	NP_001338039.1:n.*38+6120A>T
NM_001351110.2:c.*38+6120A>T (C11orf65)	NP_001338039.1:n.*38+6120A>T
NM_001351834.1:c.7169T>A (ATM)	NP_001338763.1:p.Leu2390Ter
NM_001351834.2:c.7169T>A (ATM)	NP_001338763.1:p.Leu2390Ter
ENST00000278616.8:c.7169T>A (ATM)	ENSP00000278616.4:p.Leu2390Ter
ENST00000278616.9:c.7169T>A (ATM)	ENSP00000278616.4:p.Leu2390Ter
ENST00000452508.6:c.7169T>A (ATM)	ENSP00000388058.2:p.Leu2390Ter
ENST00000452508.7:c.7169T>A (ATM)	ENSP00000388058.2:p.Leu2390Ter
ENST00000524792.5:n.3384T>A (ATM)
ENST00000525056.2:n.1588T>A (ATM)
ENST00000525537.2:n.445T>A (ATM)
ENST00000525537.3:n.126T>A (ATM)
ENST00000525729.5:c.641-20029A>T (C11orf65)	ENSP00000433395.1:n.641-20029A>T
ENST00000527389.2:n.194T>A (ATM)
ENST00000527805.6:c.*2233T>A (ATM)	ENSP00000435747.2:n.*2233T>A
ENST00000533690.5:n.2573T>A (ATM)
ENST00000638786.2:n.6T>A (ATM)
ENST00000675595.1:c.*2304T>A (ATM)	ENSP00000502563.1:n.*2304T>A
ENST00000682286.1:n.1926T>A (ATM)
ENST00000682302.1:n.1587T>A (ATM)
ENST00000683174.1:n.8653T>A (ATM)
ENST00000683524.1:n.2393T>A (ATM)
ENST00000684152.1:n.2883T>A (ATM)
ENST00000684447.1:n.1632T>A (ATM)
ENST00000713593.1:c.*6640T>A (ATM)	ENSP00000518889.1:n.*6640T>A
XM_005271561.3:c.7169T>A (ATM)	XP_005271618.2:p.Leu2390Ter
XM_005271562.3:c.7169T>A (ATM)	XP_005271619.2:p.Leu2390Ter
XM_005271562.5:c.7169T>A (ATM)	XP_005271619.2:p.Leu2390Ter
XM_006718843.2:c.7169T>A (ATM)	XP_006718906.1:p.Leu2390Ter
XM_006718843.4:c.7169T>A (ATM)	XP_006718906.1:p.Leu2390Ter
XM_006718845.1:c.3125T>A (ATM)	XP_006718908.1:p.Leu1042Ter
XM_006718845.2:c.3125T>A (ATM)	XP_006718908.1:p.Leu1042Ter
XM_011542840.1:c.7169T>A (ATM)	XP_011541142.1:p.Leu2390Ter
XM_011542840.3:c.7169T>A (ATM)	XP_011541142.1:p.Leu2390Ter
XM_011542841.1:c.7169T>A (ATM)	XP_011541143.1:p.Leu2390Ter
XM_011542842.1:c.7004T>A (ATM)	XP_011541144.1:p.Leu2335Ter
XM_011542842.3:c.7004T>A (ATM)	XP_011541144.1:p.Leu2335Ter
XM_011542843.1:c.7169T>A (ATM)	XP_011541145.1:p.Leu2390Ter
XM_011542843.2:c.7169T>A (ATM)	XP_011541145.1:p.Leu2390Ter
XM_011542844.1:c.6125T>A (ATM)	XP_011541146.1:p.Leu2042Ter
XM_011542844.3:c.6125T>A (ATM)	XP_011541146.1:p.Leu2042Ter
XM_011542845.1:c.5861T>A (ATM)	XP_011541147.1:p.Leu1954Ter
XM_011542845.2:c.5861T>A (ATM)	XP_011541147.1:p.Leu1954Ter
XM_011542847.1:c.2240T>A (ATM)	XP_011541149.1:p.Leu747Ter
XM_017017789.2:c.7169T>A (ATM)	XP_016873278.1:p.Leu2390Ter
XM_017017790.2:c.7169T>A (ATM)	XP_016873279.1:p.Leu2390Ter