Canonical Allele Identifier: CA1998820609

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353777_108353786delinsGAACAGGGCA , CM000673.2:g.108353777_108353786delinsGAACAGGGCA	GRCh38
NC_000011.9:g.108224504_108224513delinsGAACAGGGCA , CM000673.1:g.108224504_108224513delinsGAACAGGGCA	GRCh37
NC_000011.8:g.107729714_107729723delinsGAACAGGGCA	NCBI36
NG_009830.1:g.135946_135955delinsGAACAGGGCA , LRG_135:g.135946_135955delinsGAACAGGGCA
NG_054724.1:g.121047_121056delinsTGCCCTGTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8683_8692delinsGAACAGGGCA (ATM)	ENSP00000388058.2:p.Glu2895=
ENST00000713593.1:c.*8154_*8163delinsGAACAGGGCA (ATM)	ENSP00000518889.1:n.*8154_*8163delinsGAAC...
ENST00000278616.9:c.8683_8692delinsGAACAGGGCA (ATM)	ENSP00000278616.4:p.Glu2895=
ENST00000638786.2:n.1381_1390delinsGAACAGGGCA (ATM)
ENST00000682286.1:n.3440_3449delinsGAACAGGGCA (ATM)
ENST00000682302.1:n.3101_3110delinsGAACAGGGCA (ATM)
ENST00000683174.1:n.10167_10176delinsGAACAGGGCA (ATM)
ENST00000683524.1:n.3907_3916delinsGAACAGGGCA (ATM)
ENST00000684152.1:n.4099_4108delinsGAACAGGGCA (ATM)
ENST00000684180.1:n.1157_1166delinsGAACAGGGCA (ATM)
ENST00000684447.1:n.5176_5185delinsGAACAGGGCA (ATM)
ENST00000527805.6:c.*3747_*3756delinsGAACAGGGCA (ATM)	ENSP00000435747.2:n.*3747_*3756delinsGAAC...
ENST00000675595.1:c.*3818_*3827delinsGAACAGGGCA (ATM)	ENSP00000502563.1:n.*3818_*3827delinsGAAC...
ENST00000675843.1:c.8683_8692delinsGAACAGGGCA (ATM) MANE Select	ENSP00000501606.1:p.Glu2895=
ENST00000278616.8:c.8683_8692delinsGAACAGGGCA (ATM)	ENSP00000278616.4:p.Glu2895=
ENST00000452508.6:c.8683_8692delinsGAACAGGGCA (ATM)	ENSP00000388058.2:p.Glu2895=
ENST00000524755.5:c.227-18494_227-18485delinsTGCCCTGTTC (C11orf65)
ENST00000524792.5:n.4898_4907delinsGAACAGGGCA (ATM)
ENST00000525178.5:n.171_180delinsGAACAGGGCA (ATM)
ENST00000525729.5:c.640+32134_640+32143delinsTGCCCTGTTC (C11orf65)	ENSP00000433395.1:n.640+32134_640+32143de...
ENST00000526725.1:n.272-13422_272-13413delinsTGCCCTGTTC (C11orf65)
ENST00000527181.1:n.22_31delinsGAACAGGGCA (ATM)
ENST00000527531.5:c.*1196+1129_*1196+1138delinsTGCCCTGTTC (C11orf65)	ENSP00000431706.1:n.*1196+1129_*1196+1138...
ENST00000615746.4:c.*1196+1129_*1196+1138delinsTGCCCTGTTC (C11orf65)	ENSP00000483537.1:n.*1196+1129_*1196+1138...
NM_000051.3:c.8683_8692delinsGAACAGGGCA , LRG_135t1:c.8683_8692delinsGAACAGGGCA (ATM)	NP_000042.3:p.Glu2895=
XM_005271414.3:c.788-18494_788-18485delinsTGCCCTGTTC (C11orf65)	XP_005271471.1:n.788-18494_788-18485delin...
XM_005271415.3:c.732-18494_732-18485delinsTGCCCTGTTC (C11orf65)	XP_005271472.1:n.732-18494_732-18485delin...
XM_005271561.3:c.8683_8692delinsGAACAGGGCA (ATM)	XP_005271618.2:p.Glu2895=
XM_005271562.3:c.8683_8692delinsGAACAGGGCA (ATM)	XP_005271619.2:p.Glu2895=
XM_006718843.2:c.8683_8692delinsGAACAGGGCA (ATM)	XP_006718906.1:p.Glu2895=
XM_006718845.1:c.4639_4648delinsGAACAGGGCA (ATM)	XP_006718908.1:p.Glu1547=
XM_011542640.1:c.788-13422_788-13413delinsTGCCCTGTTC (C11orf65)	XP_011540942.1:n.788-13422_788-13413delin...
XM_011542642.1:c.732-4713_732-4704delinsTGCCCTGTTC (C11orf65)	XP_011540944.1:n.732-4713_732-4704delinsT...
XM_011542643.1:c.732-13422_732-13413delinsTGCCCTGTTC (C11orf65)	XP_011540945.1:n.732-13422_732-13413delin...
XM_011542840.1:c.8683_8692delinsGAACAGGGCA (ATM)	XP_011541142.1:p.Glu2895=
XM_011542841.1:c.8683_8692delinsGAACAGGGCA (ATM)	XP_011541143.1:p.Glu2895=
XM_011542842.1:c.8518_8527delinsGAACAGGGCA (ATM)	XP_011541144.1:p.Glu2840=
XM_011542844.1:c.7639_7648delinsGAACAGGGCA (ATM)	XP_011541146.1:p.Glu2547=
XM_011542845.1:c.7375_7384delinsGAACAGGGCA (ATM)	XP_011541147.1:p.Glu2459=
XM_011542847.1:c.3754_3763delinsGAACAGGGCA (ATM)	XP_011541149.1:p.Glu1252=
NM_001330368.1:c.640+32134_640+32143delinsTGCCCTGTTC (C11orf65)	NP_001317297.1:n.640+32134_640+32143delin...
NM_001351110.1:c.695-18494_695-18485delinsTGCCCTGTTC (C11orf65)	NP_001338039.1:n.695-18494_695-18485delin...
NM_001351834.1:c.8683_8692delinsGAACAGGGCA (ATM)	NP_001338763.1:p.Glu2895=
NR_147053.2:n.2301+1129_2301+1138delinsTGCCCTGTTC (C11orf65)
XM_005271414.4:c.788-18494_788-18485delinsTGCCCTGTTC (C11orf65)	XP_005271471.1:n.788-18494_788-18485delin...
XM_005271415.4:c.732-18494_732-18485delinsTGCCCTGTTC (C11orf65)	XP_005271472.1:n.732-18494_732-18485delin...
XM_005271562.5:c.8683_8692delinsGAACAGGGCA (ATM)	XP_005271619.2:p.Glu2895=
XM_006718843.4:c.8683_8692delinsGAACAGGGCA (ATM)	XP_006718906.1:p.Glu2895=
XM_006718845.2:c.4639_4648delinsGAACAGGGCA (ATM)	XP_006718908.1:p.Glu1547=
XM_011542640.2:c.788-13422_788-13413delinsTGCCCTGTTC (C11orf65)	XP_011540942.1:n.788-13422_788-13413delin...
XM_011542643.2:c.732-13422_732-13413delinsTGCCCTGTTC (C11orf65)	XP_011540945.1:n.732-13422_732-13413delin...
XM_011542840.3:c.8683_8692delinsGAACAGGGCA (ATM)	XP_011541142.1:p.Glu2895=
XM_011542842.3:c.8518_8527delinsGAACAGGGCA (ATM)	XP_011541144.1:p.Glu2840=
XM_011542844.3:c.7639_7648delinsGAACAGGGCA (ATM)	XP_011541146.1:p.Glu2547=
XM_011542845.2:c.7375_7384delinsGAACAGGGCA (ATM)	XP_011541147.1:p.Glu2459=
XM_017017247.1:c.904-13422_904-13413delinsTGCCCTGTTC (C11orf65)	XP_016872736.1:n.904-13422_904-13413delin...
XM_017017789.2:c.8683_8692delinsGAACAGGGCA (ATM)	XP_016873278.1:p.Glu2895=
XM_017017790.2:c.8683_8692delinsGAACAGGGCA (ATM)	XP_016873279.1:p.Glu2895=
NM_001330368.2:c.640+32134_640+32143delinsTGCCCTGTTC (C11orf65)	NP_001317297.1:n.640+32134_640+32143delin...
NM_001351110.2:c.695-18494_695-18485delinsTGCCCTGTTC (C11orf65)	NP_001338039.1:n.695-18494_695-18485delin...
NM_001351834.2:c.8683_8692delinsGAACAGGGCA (ATM)	NP_001338763.1:p.Glu2895=
NM_000051.4:c.8683_8692delinsGAACAGGGCA (ATM) MANE Select	NP_000042.3:p.Glu2895=
NR_147053.3:n.2299+1129_2299+1138delinsTGCCCTGTTC (C11orf65)