Canonical Allele Identifier: CA476677750
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136663479
MyVariant Identifiers: chr11:g.108205812C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335085C>G , CM000673.2:g.108335085C>G GRCh38
NC_000011.9:g.108205812C>G , CM000673.1:g.108205812C>G GRCh37
NC_000011.8:g.107711022C>G NCBI36
NG_009830.1:g.117254C>G , LRG_135:g.117254C>G
NG_054724.1:g.139748G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8127C>G (ATM) ENSP00000388058.2:p.Gly2709=
ENST00000713593.1:c.*7598C>G (ATM) ENSP00000518889.1:n.*7598C>G
ENST00000278616.9:c.8127C>G (ATM) ENSP00000278616.4:p.Gly2709=
ENST00000525056.2:n.2546C>G (ATM)
ENST00000638786.2:n.825C>G (ATM)
ENST00000682286.1:n.2884C>G (ATM)
ENST00000682302.1:n.2545C>G (ATM)
ENST00000683174.1:n.9611C>G (ATM)
ENST00000683524.1:n.3351C>G (ATM)
ENST00000684152.1:n.3543C>G (ATM)
ENST00000684180.1:n.601C>G (ATM)
ENST00000684447.1:n.4620C>G (ATM)
ENST00000527805.6:c.*3191C>G (ATM) ENSP00000435747.2:n.*3191C>G
ENST00000675595.1:c.*3262C>G (ATM) ENSP00000502563.1:n.*3262C>G
ENST00000675843.1:c.8127C>G (ATM) MANE Select ENSP00000501606.1:p.Gly2709=
ENST00000278616.8:c.8127C>G (ATM) ENSP00000278616.4:p.Gly2709=
ENST00000452508.6:c.8127C>G (ATM) ENSP00000388058.2:p.Gly2709=
ENST00000524755.5:c.299+135G>C (C11orf65)
ENST00000524792.5:n.4342C>G (ATM)
ENST00000525056.1:n.324C>G (ATM)
ENST00000525729.5:c.641-26014G>C (C11orf65) ENSP00000433395.1:n.641-26014G>C
ENST00000527531.5:c.*1269+135G>C (C11orf65) ENSP00000431706.1:n.*1269+135G>C
ENST00000533979.5:n.339C>G (ATM)
ENST00000615746.4:c.*1269+135G>C (C11orf65) ENSP00000483537.1:n.*1269+135G>C
NM_000051.3:c.8127C>G , LRG_135t1:c.8127C>G (ATM) NP_000042.3:p.Gly2709=
XM_005271414.3:c.*38+135G>C (C11orf65) XP_005271471.1:n.*38+135G>C
XM_005271415.3:c.804+135G>C (C11orf65) XP_005271472.1:n.804+135G>C
XM_005271561.3:c.8127C>G (ATM) XP_005271618.2:p.Gly2709=
XM_005271562.3:c.8127C>G (ATM) XP_005271619.2:p.Gly2709=
XM_006718843.2:c.8127C>G (ATM) XP_006718906.1:p.Gly2709=
XM_006718845.1:c.4083C>G (ATM) XP_006718908.1:p.Gly1361=
XM_011542840.1:c.8127C>G (ATM) XP_011541142.1:p.Gly2709=
XM_011542841.1:c.8127C>G (ATM) XP_011541143.1:p.Gly2709=
XM_011542842.1:c.7962C>G (ATM) XP_011541144.1:p.Gly2654=
XM_011542843.1:c.8127C>G (ATM) XP_011541145.1:p.Gly2709=
XM_011542844.1:c.7083C>G (ATM) XP_011541146.1:p.Gly2361=
XM_011542845.1:c.6819C>G (ATM) XP_011541147.1:p.Gly2273=
XM_011542847.1:c.3198C>G (ATM) XP_011541149.1:p.Gly1066=
NM_001330368.1:c.641-26014G>C (C11orf65) NP_001317297.1:n.641-26014G>C
NM_001351110.1:c.*38+135G>C (C11orf65) NP_001338039.1:n.*38+135G>C
NM_001351834.1:c.8127C>G (ATM) NP_001338763.1:p.Gly2709=
NR_147053.2:n.2374+135G>C (C11orf65)
XM_005271414.4:c.*38+135G>C (C11orf65) XP_005271471.1:n.*38+135G>C
XM_005271415.4:c.804+135G>C (C11orf65) XP_005271472.1:n.804+135G>C
XM_005271562.5:c.8127C>G (ATM) XP_005271619.2:p.Gly2709=
XM_006718843.4:c.8127C>G (ATM) XP_006718906.1:p.Gly2709=
XM_006718845.2:c.4083C>G (ATM) XP_006718908.1:p.Gly1361=
XM_011542840.3:c.8127C>G (ATM) XP_011541142.1:p.Gly2709=
XM_011542842.3:c.7962C>G (ATM) XP_011541144.1:p.Gly2654=
XM_011542843.2:c.8127C>G (ATM) XP_011541145.1:p.Gly2709=
XM_011542844.3:c.7083C>G (ATM) XP_011541146.1:p.Gly2361=
XM_011542845.2:c.6819C>G (ATM) XP_011541147.1:p.Gly2273=
XM_017017789.2:c.8127C>G (ATM) XP_016873278.1:p.Gly2709=
XM_017017790.2:c.8127C>G (ATM) XP_016873279.1:p.Gly2709=
NM_001330368.2:c.641-26014G>C (C11orf65) NP_001317297.1:n.641-26014G>C
NM_001351110.2:c.*38+135G>C (C11orf65) NP_001338039.1:n.*38+135G>C
NM_001351834.2:c.8127C>G (ATM) NP_001338763.1:p.Gly2709=
NM_000051.4:c.8127C>G (ATM) MANE Select NP_000042.3:p.Gly2709=
NR_147053.3:n.2372+135G>C (C11orf65)