Canonical Allele Identifier: CA2697556954

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2706322
• ClinVar RCV Id: RCV003501218

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330293_108330300del , CM000673.2:g.108330293_108330300del	GRCh38
NC_000011.9:g.108201020_108201027del , CM000673.1:g.108201020_108201027del	GRCh37
NC_000011.8:g.107706230_107706237del	NCBI36
NG_009830.1:g.112462_112469del , LRG_135:g.112462_112469del
NG_054724.1:g.144533_144540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7387_7394del (ATM)	ENSP00000388058.2:p.Leu2463SerfsTer3
ENST00000713593.1:c.*6858_*6865del (ATM)	ENSP00000518889.1:n.*6858_*6865del
ENST00000278616.9:c.7387_7394del (ATM)	ENSP00000278616.4:p.Leu2463SerfsTer3
ENST00000525056.2:n.1806_1813del (ATM)
ENST00000525537.3:n.344_351del (ATM)
ENST00000638786.2:n.224_231del (ATM)
ENST00000682286.1:n.2144_2151del (ATM)
ENST00000682302.1:n.1805_1812del (ATM)
ENST00000683174.1:n.8871_8878del (ATM)
ENST00000683524.1:n.2611_2618del (ATM)
ENST00000684152.1:n.3101_3108del (ATM)
ENST00000684447.1:n.1850_1857del (ATM)
ENST00000527805.6:c.*2451_*2458del (ATM)	ENSP00000435747.2:n.*2451_*2458del
ENST00000675595.1:c.*2522_*2529del (ATM)	ENSP00000502563.1:n.*2522_*2529del
ENST00000675843.1:c.7387_7394del (ATM) MANE Select	ENSP00000501606.1:p.Leu2463SerfsTer3
ENST00000278616.8:c.7387_7394del (ATM)	ENSP00000278616.4:p.Leu2463SerfsTer3
ENST00000452508.6:c.7387_7394del (ATM)	ENSP00000388058.2:p.Leu2463SerfsTer3
ENST00000524792.5:n.3602_3609del (ATM)
ENST00000525729.5:c.641-21229_641-21222del (C11orf65)	ENSP00000433395.1:n.641-21229_641-21222de...
ENST00000533690.5:n.2791_2798del (ATM)
NM_000051.3:c.7387_7394del , LRG_135t1:c.7387_7394del (ATM)	NP_000042.3:p.Leu2463SerfsTer3
XM_005271561.3:c.7387_7394del (ATM)	XP_005271618.2:p.Leu2463SerfsTer3
XM_005271562.3:c.7387_7394del (ATM)	XP_005271619.2:p.Leu2463SerfsTer3
XM_006718843.2:c.7387_7394del (ATM)	XP_006718906.1:p.Leu2463SerfsTer3
XM_006718845.1:c.3343_3350del (ATM)	XP_006718908.1:p.Leu1115SerfsTer3
XM_011542840.1:c.7387_7394del (ATM)	XP_011541142.1:p.Leu2463SerfsTer3
XM_011542841.1:c.7387_7394del (ATM)	XP_011541143.1:p.Leu2463SerfsTer3
XM_011542842.1:c.7222_7229del (ATM)	XP_011541144.1:p.Leu2408SerfsTer3
XM_011542843.1:c.7387_7394del (ATM)	XP_011541145.1:p.Leu2463SerfsTer3
XM_011542844.1:c.6343_6350del (ATM)	XP_011541146.1:p.Leu2115SerfsTer3
XM_011542845.1:c.6079_6086del (ATM)	XP_011541147.1:p.Leu2027SerfsTer3
XM_011542847.1:c.2458_2465del (ATM)	XP_011541149.1:p.Leu820SerfsTer3
NM_001330368.1:c.641-21229_641-21222del (C11orf65)	NP_001317297.1:n.641-21229_641-21222del
NM_001351110.1:c.*38+4920_*38+4927del (C11orf65)	NP_001338039.1:n.*38+4920_*38+4927del
NM_001351834.1:c.7387_7394del (ATM)	NP_001338763.1:p.Leu2463SerfsTer3
XM_005271562.5:c.7387_7394del (ATM)	XP_005271619.2:p.Leu2463SerfsTer3
XM_006718843.4:c.7387_7394del (ATM)	XP_006718906.1:p.Leu2463SerfsTer3
XM_006718845.2:c.3343_3350del (ATM)	XP_006718908.1:p.Leu1115SerfsTer3
XM_011542840.3:c.7387_7394del (ATM)	XP_011541142.1:p.Leu2463SerfsTer3
XM_011542842.3:c.7222_7229del (ATM)	XP_011541144.1:p.Leu2408SerfsTer3
XM_011542843.2:c.7387_7394del (ATM)	XP_011541145.1:p.Leu2463SerfsTer3
XM_011542844.3:c.6343_6350del (ATM)	XP_011541146.1:p.Leu2115SerfsTer3
XM_011542845.2:c.6079_6086del (ATM)	XP_011541147.1:p.Leu2027SerfsTer3
XM_017017789.2:c.7387_7394del (ATM)	XP_016873278.1:p.Leu2463SerfsTer3
XM_017017790.2:c.7387_7394del (ATM)	XP_016873279.1:p.Leu2463SerfsTer3
NM_001330368.2:c.641-21229_641-21222del (C11orf65)	NP_001317297.1:n.641-21229_641-21222del
NM_001351110.2:c.*38+4920_*38+4927del (C11orf65)	NP_001338039.1:n.*38+4920_*38+4927del
NM_001351834.2:c.7387_7394del (ATM)	NP_001338763.1:p.Leu2463SerfsTer3
NM_000051.4:c.7387_7394del (ATM) MANE Select	NP_000042.3:p.Leu2463SerfsTer3