Canonical Allele Identifier: CA2615862365

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108332867-AACTTAGATGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332871_108332881del , CM000673.2:g.108332871_108332881del	GRCh38
NC_000011.9:g.108203598_108203608del , CM000673.1:g.108203598_108203608del	GRCh37
NC_000011.8:g.107708808_107708818del	NCBI36
NG_009830.1:g.115040_115050del , LRG_135:g.115040_115050del
NG_054724.1:g.141955_141965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7898_7908del (ATM)	ENSP00000388058.2:p.Leu2633SerfsTer19
ENST00000713593.1:c.*7369_*7379del (ATM)	ENSP00000518889.1:n.*7369_*7379del
ENST00000278616.9:c.7898_7908del (ATM)	ENSP00000278616.4:p.Leu2633SerfsTer19
ENST00000525056.2:n.2317_2327del (ATM)
ENST00000525537.3:n.1579_1589del (ATM)
ENST00000638786.2:n.625+834_625+844del (ATM)
ENST00000682286.1:n.2655_2665del (ATM)
ENST00000682302.1:n.2316_2326del (ATM)
ENST00000683174.1:n.9382_9392del (ATM)
ENST00000683524.1:n.3122_3132del (ATM)
ENST00000684152.1:n.3344-1015_3344-1005del (ATM)
ENST00000684180.1:n.372_382del (ATM)
ENST00000684447.1:n.3406_3416del (ATM)
ENST00000527805.6:c.*2962_*2972del (ATM)	ENSP00000435747.2:n.*2962_*2972del
ENST00000675595.1:c.*3033_*3043del (ATM)	ENSP00000502563.1:n.*3033_*3043del
ENST00000675843.1:c.7898_7908del (ATM) MANE Select	ENSP00000501606.1:p.Leu2633SerfsTer19
ENST00000278616.8:c.7898_7908del (ATM)	ENSP00000278616.4:p.Leu2633SerfsTer19
ENST00000452508.6:c.7898_7908del (ATM)	ENSP00000388058.2:p.Leu2633SerfsTer19
ENST00000524755.5:c.300-1311_300-1301del (C11orf65)
ENST00000524792.5:n.4113_4123del (ATM)
ENST00000525056.1:n.95_105del (ATM)
ENST00000525729.5:c.641-23807_641-23797del (C11orf65)	ENSP00000433395.1:n.641-23807_641-23797del
ENST00000527531.5:c.*1270-1311_*1270-1301del (C11orf65)	ENSP00000431706.1:n.*1270-1311_*1270-1301del
ENST00000533690.5:n.3302_3312del (ATM)
ENST00000533979.5:n.110_120del (ATM)
ENST00000615746.4:c.*1270-1311_*1270-1301del (C11orf65)	ENSP00000483537.1:n.*1270-1311_*1270-1301del
NM_000051.3:c.7898_7908del , LRG_135t1:c.7898_7908del (ATM)	NP_000042.3:p.Leu2633SerfsTer19
XM_005271414.3:c.*39-1311_*39-1301del (C11orf65)	XP_005271471.1:n.*39-1311_*39-1301del
XM_005271415.3:c.805-1311_805-1301del (C11orf65)	XP_005271472.1:n.805-1311_805-1301del
XM_005271561.3:c.7898_7908del (ATM)	XP_005271618.2:p.Leu2633SerfsTer19
XM_005271562.3:c.7898_7908del (ATM)	XP_005271619.2:p.Leu2633SerfsTer19
XM_006718843.2:c.7898_7908del (ATM)	XP_006718906.1:p.Leu2633SerfsTer19
XM_006718845.1:c.3854_3864del (ATM)	XP_006718908.1:p.Leu1285SerfsTer19
XM_011542840.1:c.7898_7908del (ATM)	XP_011541142.1:p.Leu2633SerfsTer19
XM_011542841.1:c.7898_7908del (ATM)	XP_011541143.1:p.Leu2633SerfsTer19
XM_011542842.1:c.7733_7743del (ATM)	XP_011541144.1:p.Leu2578SerfsTer19
XM_011542843.1:c.7898_7908del (ATM)	XP_011541145.1:p.Leu2633SerfsTer19
XM_011542844.1:c.6854_6864del (ATM)	XP_011541146.1:p.Leu2285SerfsTer19
XM_011542845.1:c.6590_6600del (ATM)	XP_011541147.1:p.Leu2197SerfsTer19
XM_011542847.1:c.2969_2979del (ATM)	XP_011541149.1:p.Leu990SerfsTer19
NM_001330368.1:c.641-23807_641-23797del (C11orf65)	NP_001317297.1:n.641-23807_641-23797del
NM_001351110.1:c.*38+2342_*38+2352del (C11orf65)	NP_001338039.1:n.*38+2342_*38+2352del
NM_001351834.1:c.7898_7908del (ATM)	NP_001338763.1:p.Leu2633SerfsTer19
NR_147053.2:n.2375-1311_2375-1301del (C11orf65)
XM_005271414.4:c.*39-1311_*39-1301del (C11orf65)	XP_005271471.1:n.*39-1311_*39-1301del
XM_005271415.4:c.805-1311_805-1301del (C11orf65)	XP_005271472.1:n.805-1311_805-1301del
XM_005271562.5:c.7898_7908del (ATM)	XP_005271619.2:p.Leu2633SerfsTer19
XM_006718843.4:c.7898_7908del (ATM)	XP_006718906.1:p.Leu2633SerfsTer19
XM_006718845.2:c.3854_3864del (ATM)	XP_006718908.1:p.Leu1285SerfsTer19
XM_011542840.3:c.7898_7908del (ATM)	XP_011541142.1:p.Leu2633SerfsTer19
XM_011542842.3:c.7733_7743del (ATM)	XP_011541144.1:p.Leu2578SerfsTer19
XM_011542843.2:c.7898_7908del (ATM)	XP_011541145.1:p.Leu2633SerfsTer19
XM_011542844.3:c.6854_6864del (ATM)	XP_011541146.1:p.Leu2285SerfsTer19
XM_011542845.2:c.6590_6600del (ATM)	XP_011541147.1:p.Leu2197SerfsTer19
XM_017017789.2:c.7898_7908del (ATM)	XP_016873278.1:p.Leu2633SerfsTer19
XM_017017790.2:c.7898_7908del (ATM)	XP_016873279.1:p.Leu2633SerfsTer19
NM_001330368.2:c.641-23807_641-23797del (C11orf65)	NP_001317297.1:n.641-23807_641-23797del
NM_001351110.2:c.*38+2342_*38+2352del (C11orf65)	NP_001338039.1:n.*38+2342_*38+2352del
NM_001351834.2:c.7898_7908del (ATM)	NP_001338763.1:p.Leu2633SerfsTer19
NM_000051.4:c.7898_7908del (ATM) MANE Select	NP_000042.3:p.Leu2633SerfsTer19
NR_147053.3:n.2373-1311_2373-1301del (C11orf65)