Canonical Allele Identifier: CA382550693

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316088C>G , CM000673.2:g.108316088C>G	GRCh38
NC_000011.9:g.108186815C>G , CM000673.1:g.108186815C>G	GRCh37
NC_000011.8:g.107692025C>G	NCBI36
NG_009830.1:g.98257C>G , LRG_135:g.98257C>G
NG_054724.1:g.158745G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.6173C>G (ATM) MANE Select	NP_000042.3:p.Ser2058Ter
ENST00000675843.1:c.6173C>G (ATM) MANE Select	ENSP00000501606.1:p.Ser2058Ter
NM_000051.3:c.6173C>G , LRG_135t1:c.6173C>G (ATM)	NP_000042.3:p.Ser2058Ter
NM_001330368.1:c.641-7017G>C (C11orf65)	NP_001317297.1:n.641-7017G>C
NM_001330368.2:c.641-7017G>C (C11orf65)	NP_001317297.1:n.641-7017G>C
NM_001351110.1:c.*39-7017G>C (C11orf65)	NP_001338039.1:n.*39-7017G>C
NM_001351110.2:c.*39-7017G>C (C11orf65)	NP_001338039.1:n.*39-7017G>C
NM_001351834.1:c.6173C>G (ATM)	NP_001338763.1:p.Ser2058Ter
NM_001351834.2:c.6173C>G (ATM)	NP_001338763.1:p.Ser2058Ter
ENST00000278616.8:c.6173C>G (ATM)	ENSP00000278616.4:p.Ser2058Ter
ENST00000278616.9:c.6173C>G (ATM)	ENSP00000278616.4:p.Ser2058Ter
ENST00000452508.6:c.6173C>G (ATM)	ENSP00000388058.2:p.Ser2058Ter
ENST00000452508.7:c.6173C>G (ATM)	ENSP00000388058.2:p.Ser2058Ter
ENST00000524792.5:n.2388C>G (ATM)
ENST00000525056.2:n.592C>G (ATM)
ENST00000525729.5:c.641-7017G>C (C11orf65)	ENSP00000433395.1:n.641-7017G>C
ENST00000527805.6:c.*1237C>G (ATM)	ENSP00000435747.2:n.*1237C>G
ENST00000532765.1:n.490C>G (ATM)
ENST00000533690.5:n.1577C>G (ATM)
ENST00000675595.1:c.*1237C>G (ATM)	ENSP00000502563.1:n.*1237C>G
ENST00000682286.1:n.930C>G (ATM)
ENST00000682302.1:n.591C>G (ATM)
ENST00000683174.1:n.7657C>G (ATM)
ENST00000683524.1:n.1397C>G (ATM)
ENST00000684152.1:n.1887C>G (ATM)
ENST00000713593.1:c.*5644C>G (ATM)	ENSP00000518889.1:n.*5644C>G
XM_005271561.3:c.6173C>G (ATM)	XP_005271618.2:p.Ser2058Ter
XM_005271562.3:c.6173C>G (ATM)	XP_005271619.2:p.Ser2058Ter
XM_005271562.5:c.6173C>G (ATM)	XP_005271619.2:p.Ser2058Ter
XM_006718843.2:c.6173C>G (ATM)	XP_006718906.1:p.Ser2058Ter
XM_006718843.4:c.6173C>G (ATM)	XP_006718906.1:p.Ser2058Ter
XM_006718845.1:c.2129C>G (ATM)	XP_006718908.1:p.Ser710Ter
XM_006718845.2:c.2129C>G (ATM)	XP_006718908.1:p.Ser710Ter
XM_011542840.1:c.6173C>G (ATM)	XP_011541142.1:p.Ser2058Ter
XM_011542840.3:c.6173C>G (ATM)	XP_011541142.1:p.Ser2058Ter
XM_011542841.1:c.6173C>G (ATM)	XP_011541143.1:p.Ser2058Ter
XM_011542842.1:c.6008C>G (ATM)	XP_011541144.1:p.Ser2003Ter
XM_011542842.3:c.6008C>G (ATM)	XP_011541144.1:p.Ser2003Ter
XM_011542843.1:c.6173C>G (ATM)	XP_011541145.1:p.Ser2058Ter
XM_011542843.2:c.6173C>G (ATM)	XP_011541145.1:p.Ser2058Ter
XM_011542844.1:c.5129C>G (ATM)	XP_011541146.1:p.Ser1710Ter
XM_011542844.3:c.5129C>G (ATM)	XP_011541146.1:p.Ser1710Ter
XM_011542845.1:c.4865C>G (ATM)	XP_011541147.1:p.Ser1622Ter
XM_011542845.2:c.4865C>G (ATM)	XP_011541147.1:p.Ser1622Ter
XM_011542847.1:c.1244C>G (ATM)	XP_011541149.1:p.Ser415Ter
XM_017017789.2:c.6173C>G (ATM)	XP_016873278.1:p.Ser2058Ter
XM_017017790.2:c.6173C>G (ATM)	XP_016873279.1:p.Ser2058Ter
XM_017017791.1:c.6173C>G (ATM)	XP_016873280.1:p.Ser2058Ter