Canonical Allele Identifier: CA382559601
Community Standard Title: NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329126C>T , CM000673.2:g.108329126C>T GRCh38
NC_000011.9:g.108199853C>T , CM000673.1:g.108199853C>T GRCh37
NC_000011.8:g.107705063C>T NCBI36
NG_009830.1:g.111295C>T , LRG_135:g.111295C>T
NG_054724.1:g.145707G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.7195C>T (ATM) MANE Select NP_000042.3:p.Gln2399Ter
ENST00000675843.1:c.7195C>T (ATM) MANE Select ENSP00000501606.1:p.Gln2399Ter
NM_000051.3:c.7195C>T , LRG_135t1:c.7195C>T (ATM) NP_000042.3:p.Gln2399Ter
NM_001330368.1:c.641-20055G>A (C11orf65) NP_001317297.1:n.641-20055G>A
NM_001330368.2:c.641-20055G>A (C11orf65) NP_001317297.1:n.641-20055G>A
NM_001351110.1:c.*38+6094G>A (C11orf65) NP_001338039.1:n.*38+6094G>A
NM_001351110.2:c.*38+6094G>A (C11orf65) NP_001338039.1:n.*38+6094G>A
NM_001351834.1:c.7195C>T (ATM) NP_001338763.1:p.Gln2399Ter
NM_001351834.2:c.7195C>T (ATM) NP_001338763.1:p.Gln2399Ter
ENST00000278616.8:c.7195C>T (ATM) ENSP00000278616.4:p.Gln2399Ter
ENST00000278616.9:c.7195C>T (ATM) ENSP00000278616.4:p.Gln2399Ter
ENST00000452508.6:c.7195C>T (ATM) ENSP00000388058.2:p.Gln2399Ter
ENST00000452508.7:c.7195C>T (ATM) ENSP00000388058.2:p.Gln2399Ter
ENST00000524792.5:n.3410C>T (ATM)
ENST00000525056.2:n.1614C>T (ATM)
ENST00000525537.2:n.471C>T (ATM)
ENST00000525537.3:n.152C>T (ATM)
ENST00000525729.5:c.641-20055G>A (C11orf65) ENSP00000433395.1:n.641-20055G>A
ENST00000527389.2:n.220C>T (ATM)
ENST00000527805.6:c.*2259C>T (ATM) ENSP00000435747.2:n.*2259C>T
ENST00000533690.5:n.2599C>T (ATM)
ENST00000638786.2:n.32C>T (ATM)
ENST00000675595.1:c.*2330C>T (ATM) ENSP00000502563.1:n.*2330C>T
ENST00000682286.1:n.1952C>T (ATM)
ENST00000682302.1:n.1613C>T (ATM)
ENST00000683174.1:n.8679C>T (ATM)
ENST00000683524.1:n.2419C>T (ATM)
ENST00000684152.1:n.2909C>T (ATM)
ENST00000684447.1:n.1658C>T (ATM)
ENST00000713593.1:c.*6666C>T (ATM) ENSP00000518889.1:n.*6666C>T
XM_005271561.3:c.7195C>T (ATM) XP_005271618.2:p.Gln2399Ter
XM_005271562.3:c.7195C>T (ATM) XP_005271619.2:p.Gln2399Ter
XM_005271562.5:c.7195C>T (ATM) XP_005271619.2:p.Gln2399Ter
XM_006718843.2:c.7195C>T (ATM) XP_006718906.1:p.Gln2399Ter
XM_006718843.4:c.7195C>T (ATM) XP_006718906.1:p.Gln2399Ter
XM_006718845.1:c.3151C>T (ATM) XP_006718908.1:p.Gln1051Ter
XM_006718845.2:c.3151C>T (ATM) XP_006718908.1:p.Gln1051Ter
XM_011542840.1:c.7195C>T (ATM) XP_011541142.1:p.Gln2399Ter
XM_011542840.3:c.7195C>T (ATM) XP_011541142.1:p.Gln2399Ter
XM_011542841.1:c.7195C>T (ATM) XP_011541143.1:p.Gln2399Ter
XM_011542842.1:c.7030C>T (ATM) XP_011541144.1:p.Gln2344Ter
XM_011542842.3:c.7030C>T (ATM) XP_011541144.1:p.Gln2344Ter
XM_011542843.1:c.7195C>T (ATM) XP_011541145.1:p.Gln2399Ter
XM_011542843.2:c.7195C>T (ATM) XP_011541145.1:p.Gln2399Ter
XM_011542844.1:c.6151C>T (ATM) XP_011541146.1:p.Gln2051Ter
XM_011542844.3:c.6151C>T (ATM) XP_011541146.1:p.Gln2051Ter
XM_011542845.1:c.5887C>T (ATM) XP_011541147.1:p.Gln1963Ter
XM_011542845.2:c.5887C>T (ATM) XP_011541147.1:p.Gln1963Ter
XM_011542847.1:c.2266C>T (ATM) XP_011541149.1:p.Gln756Ter
XM_017017789.2:c.7195C>T (ATM) XP_016873278.1:p.Gln2399Ter
XM_017017790.2:c.7195C>T (ATM) XP_016873279.1:p.Gln2399Ter