Canonical Allele Identifier: CA1998796434
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108310168C= , CM000673.2:g.108310168C= GRCh38
NC_000011.9:g.108180895C= , CM000673.1:g.108180895C= GRCh37
NC_000011.8:g.107686105C= NCBI36
NG_009830.1:g.92337C= , LRG_135:g.92337C=
NG_054724.1:g.164665G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5771C= (ATM) ENSP00000388058.2:p.Ser1924=
ENST00000713593.1:c.*5242C= (ATM) ENSP00000518889.1:n.*5242C=
ENST00000278616.9:c.5771C= (ATM) ENSP00000278616.4:p.Ser1924=
ENST00000525056.2:n.190C= (ATM)
ENST00000682286.1:n.528C= (ATM)
ENST00000682302.1:n.189C= (ATM)
ENST00000683174.1:n.7255C= (ATM)
ENST00000683524.1:n.995C= (ATM)
ENST00000684152.1:n.1485C= (ATM)
ENST00000527805.6:c.*835C= (ATM) ENSP00000435747.2:n.*835C=
ENST00000675595.1:c.*835C= (ATM) ENSP00000502563.1:n.*835C=
ENST00000675843.1:c.5771C= (ATM) MANE Select ENSP00000501606.1:p.Ser1924=
ENST00000278616.8:c.5771C= (ATM) ENSP00000278616.4:p.Ser1924=
ENST00000452508.6:c.5771C= (ATM) ENSP00000388058.2:p.Ser1924=
ENST00000524792.5:n.1986C= (ATM)
ENST00000525729.5:c.641-1097G= (C11orf65) ENSP00000433395.1:n.641-1097G=
ENST00000529588.5:c.195C= (ATM)
ENST00000532765.1:n.88C= (ATM)
ENST00000533690.5:n.1175C= (ATM)
NM_000051.3:c.5771C= , LRG_135t1:c.5771C= (ATM) NP_000042.3:p.Ser1924=
XM_005271561.3:c.5771C= (ATM) XP_005271618.2:p.Ser1924=
XM_005271562.3:c.5771C= (ATM) XP_005271619.2:p.Ser1924=
XM_006718843.2:c.5771C= (ATM) XP_006718906.1:p.Ser1924=
XM_006718845.1:c.1727C= (ATM) XP_006718908.1:p.Ser576=
XM_011542840.1:c.5771C= (ATM) XP_011541142.1:p.Ser1924=
XM_011542841.1:c.5771C= (ATM) XP_011541143.1:p.Ser1924=
XM_011542842.1:c.5606C= (ATM) XP_011541144.1:p.Ser1869=
XM_011542843.1:c.5771C= (ATM) XP_011541145.1:p.Ser1924=
XM_011542844.1:c.4727C= (ATM) XP_011541146.1:p.Ser1576=
XM_011542845.1:c.4463C= (ATM) XP_011541147.1:p.Ser1488=
XM_011542847.1:c.842C= (ATM) XP_011541149.1:p.Ser281=
NM_001330368.1:c.641-1097G= (C11orf65) NP_001317297.1:n.641-1097G=
NM_001351110.1:c.*39-1097G= (C11orf65) NP_001338039.1:n.*39-1097G=
NM_001351834.1:c.5771C= (ATM) NP_001338763.1:p.Ser1924=
XM_005271562.5:c.5771C= (ATM) XP_005271619.2:p.Ser1924=
XM_006718843.4:c.5771C= (ATM) XP_006718906.1:p.Ser1924=
XM_006718845.2:c.1727C= (ATM) XP_006718908.1:p.Ser576=
XM_011542840.3:c.5771C= (ATM) XP_011541142.1:p.Ser1924=
XM_011542842.3:c.5606C= (ATM) XP_011541144.1:p.Ser1869=
XM_011542843.2:c.5771C= (ATM) XP_011541145.1:p.Ser1924=
XM_011542844.3:c.4727C= (ATM) XP_011541146.1:p.Ser1576=
XM_011542845.2:c.4463C= (ATM) XP_011541147.1:p.Ser1488=
XM_017017789.2:c.5771C= (ATM) XP_016873278.1:p.Ser1924=
XM_017017790.2:c.5771C= (ATM) XP_016873279.1:p.Ser1924=
XM_017017791.1:c.5771C= (ATM) XP_016873280.1:p.Ser1924=
XR_002957150.1:n.6371C= (ATM)
NM_001330368.2:c.641-1097G= (C11orf65) NP_001317297.1:n.641-1097G=
NM_001351110.2:c.*39-1097G= (C11orf65) NP_001338039.1:n.*39-1097G=
NM_001351834.2:c.5771C= (ATM) NP_001338763.1:p.Ser1924=
NM_000051.4:c.5771C= (ATM) MANE Select NP_000042.3:p.Ser1924=