Canonical Allele Identifier: CA2580083328

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1757883
• ClinVar RCV Id: RCV002371077

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329176_108329199del , CM000673.2:g.108329176_108329199del	GRCh38
NC_000011.9:g.108199903_108199926del , CM000673.1:g.108199903_108199926del	GRCh37
NC_000011.8:g.107705113_107705136del	NCBI36
NG_009830.1:g.111345_111368del , LRG_135:g.111345_111368del
NG_054724.1:g.145634_145657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7245_7268del (ATM)	ENSP00000388058.2:p.Leu2416_Glu2423del
ENST00000713593.1:c.*6716_*6739del (ATM)	ENSP00000518889.1:n.*6716_*6739del
ENST00000278616.9:c.7245_7268del (ATM)	ENSP00000278616.4:p.Leu2416_Glu2423del
ENST00000525056.2:n.1664_1687del (ATM)
ENST00000525537.3:n.202_225del (ATM)
ENST00000638786.2:n.82_105del (ATM)
ENST00000682286.1:n.2002_2025del (ATM)
ENST00000682302.1:n.1663_1686del (ATM)
ENST00000683174.1:n.8729_8752del (ATM)
ENST00000683524.1:n.2469_2492del (ATM)
ENST00000684152.1:n.2959_2982del (ATM)
ENST00000684447.1:n.1708_1731del (ATM)
ENST00000527805.6:c.*2309_*2332del (ATM)	ENSP00000435747.2:n.*2309_*2332del
ENST00000675595.1:c.*2380_*2403del (ATM)	ENSP00000502563.1:n.*2380_*2403del
ENST00000675843.1:c.7245_7268del (ATM) MANE Select	ENSP00000501606.1:p.Leu2416_Glu2423del
ENST00000278616.8:c.7245_7268del (ATM)	ENSP00000278616.4:p.Leu2416_Glu2423del
ENST00000452508.6:c.7245_7268del (ATM)	ENSP00000388058.2:p.Leu2416_Glu2423del
ENST00000524792.5:n.3460_3483del (ATM)
ENST00000525537.2:n.521_544del (ATM)
ENST00000525729.5:c.641-20128_641-20105del (C11orf65)	ENSP00000433395.1:n.641-20128_641-20105del
ENST00000527389.2:n.270_293del (ATM)
ENST00000533690.5:n.2649_2672del (ATM)
NM_000051.3:c.7245_7268del , LRG_135t1:c.7245_7268del (ATM)	NP_000042.3:p.Leu2416_Glu2423del
XM_005271561.3:c.7245_7268del (ATM)	XP_005271618.2:p.Leu2416_Glu2423del
XM_005271562.3:c.7245_7268del (ATM)	XP_005271619.2:p.Leu2416_Glu2423del
XM_006718843.2:c.7245_7268del (ATM)	XP_006718906.1:p.Leu2416_Glu2423del
XM_006718845.1:c.3201_3224del (ATM)	XP_006718908.1:p.Leu1068_Glu1075del
XM_011542840.1:c.7245_7268del (ATM)	XP_011541142.1:p.Leu2416_Glu2423del
XM_011542841.1:c.7245_7268del (ATM)	XP_011541143.1:p.Leu2416_Glu2423del
XM_011542842.1:c.7080_7103del (ATM)	XP_011541144.1:p.Leu2361_Glu2368del
XM_011542843.1:c.7245_7268del (ATM)	XP_011541145.1:p.Leu2416_Glu2423del
XM_011542844.1:c.6201_6224del (ATM)	XP_011541146.1:p.Leu2068_Glu2075del
XM_011542845.1:c.5937_5960del (ATM)	XP_011541147.1:p.Leu1980_Glu1987del
XM_011542847.1:c.2316_2339del (ATM)	XP_011541149.1:p.Leu773_Glu780del
NM_001330368.1:c.641-20128_641-20105del (C11orf65)	NP_001317297.1:n.641-20128_641-20105del
NM_001351110.1:c.*38+6021_*38+6044del (C11orf65)	NP_001338039.1:n.*38+6021_*38+6044del
NM_001351834.1:c.7245_7268del (ATM)	NP_001338763.1:p.Leu2416_Glu2423del
XM_005271562.5:c.7245_7268del (ATM)	XP_005271619.2:p.Leu2416_Glu2423del
XM_006718843.4:c.7245_7268del (ATM)	XP_006718906.1:p.Leu2416_Glu2423del
XM_006718845.2:c.3201_3224del (ATM)	XP_006718908.1:p.Leu1068_Glu1075del
XM_011542840.3:c.7245_7268del (ATM)	XP_011541142.1:p.Leu2416_Glu2423del
XM_011542842.3:c.7080_7103del (ATM)	XP_011541144.1:p.Leu2361_Glu2368del
XM_011542843.2:c.7245_7268del (ATM)	XP_011541145.1:p.Leu2416_Glu2423del
XM_011542844.3:c.6201_6224del (ATM)	XP_011541146.1:p.Leu2068_Glu2075del
XM_011542845.2:c.5937_5960del (ATM)	XP_011541147.1:p.Leu1980_Glu1987del
XM_017017789.2:c.7245_7268del (ATM)	XP_016873278.1:p.Leu2416_Glu2423del
XM_017017790.2:c.7245_7268del (ATM)	XP_016873279.1:p.Leu2416_Glu2423del
NM_001330368.2:c.641-20128_641-20105del (C11orf65)	NP_001317297.1:n.641-20128_641-20105del
NM_001351110.2:c.*38+6021_*38+6044del (C11orf65)	NP_001338039.1:n.*38+6021_*38+6044del
NM_001351834.2:c.7245_7268del (ATM)	NP_001338763.1:p.Leu2416_Glu2423del
NM_000051.4:c.7245_7268del (ATM) MANE Select	NP_000042.3:p.Leu2416_Glu2423del