Canonical Allele Identifier: CA2580083521

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1976295
• ClinVar RCV Id: RCV002731332

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331862_108331863del , CM000673.2:g.108331862_108331863del	GRCh38
NC_000011.9:g.108202589_108202590del , CM000673.1:g.108202589_108202590del	GRCh37
NC_000011.8:g.107707799_107707800del	NCBI36
NG_009830.1:g.114031_114032del , LRG_135:g.114031_114032del
NG_054724.1:g.142971_142972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7630-17_7630-16del (ATM)	ENSP00000388058.2:n.7630-17_7630-16del
ENST00000713593.1:c.*7101-17_*7101-16del (ATM)	ENSP00000518889.1:n.*7101-17_*7101-16del
ENST00000278616.9:c.7630-17_7630-16del (ATM)	ENSP00000278616.4:n.7630-17_7630-16del
ENST00000525056.2:n.2049-17_2049-16del (ATM)
ENST00000525537.3:n.587-17_587-16del (ATM)
ENST00000638786.2:n.467-17_467-16del (ATM)
ENST00000682286.1:n.2387-17_2387-16del (ATM)
ENST00000682302.1:n.2048-17_2048-16del (ATM)
ENST00000683174.1:n.9114-17_9114-16del (ATM)
ENST00000683524.1:n.2854-17_2854-16del (ATM)
ENST00000684152.1:n.3343+305_3343+306del (ATM)
ENST00000684447.1:n.2397_2398del (ATM)
ENST00000527805.6:c.*2694-17_*2694-16del (ATM)	ENSP00000435747.2:n.*2694-17_*2694-16del
ENST00000675595.1:c.*2765-17_*2765-16del (ATM)	ENSP00000502563.1:n.*2765-17_*2765-16del
ENST00000675843.1:c.7630-17_7630-16del (ATM) MANE Select	ENSP00000501606.1:n.7630-17_7630-16del
ENST00000278616.8:c.7630-17_7630-16del (ATM)	ENSP00000278616.4:n.7630-17_7630-16del
ENST00000452508.6:c.7630-17_7630-16del (ATM)	ENSP00000388058.2:n.7630-17_7630-16del
ENST00000524755.5:c.300-295_300-294del (C11orf65)
ENST00000524792.5:n.3845-17_3845-16del (ATM)
ENST00000525729.5:c.641-22791_641-22790del (C11orf65)	ENSP00000433395.1:n.641-22791_641-22790del
ENST00000527531.5:c.*1270-295_*1270-294del (C11orf65)	ENSP00000431706.1:n.*1270-295_*1270-294del
ENST00000533690.5:n.3034-17_3034-16del (ATM)
ENST00000615746.4:c.*1270-295_*1270-294del (C11orf65)	ENSP00000483537.1:n.*1270-295_*1270-294del
NM_000051.3:c.7630-17_7630-16del , LRG_135t1:c.7630-17_7630-16del (ATM)	NP_000042.3:n.7630-17_7630-16del
XM_005271414.3:c.*39-295_*39-294del (C11orf65)	XP_005271471.1:n.*39-295_*39-294del
XM_005271415.3:c.805-295_805-294del (C11orf65)	XP_005271472.1:n.805-295_805-294del
XM_005271561.3:c.7630-17_7630-16del (ATM)	XP_005271618.2:n.7630-17_7630-16del
XM_005271562.3:c.7630-17_7630-16del (ATM)	XP_005271619.2:n.7630-17_7630-16del
XM_006718843.2:c.7630-17_7630-16del (ATM)	XP_006718906.1:n.7630-17_7630-16del
XM_006718845.1:c.3586-17_3586-16del (ATM)	XP_006718908.1:n.3586-17_3586-16del
XM_011542840.1:c.7630-17_7630-16del (ATM)	XP_011541142.1:n.7630-17_7630-16del
XM_011542841.1:c.7630-17_7630-16del (ATM)	XP_011541143.1:n.7630-17_7630-16del
XM_011542842.1:c.7465-17_7465-16del (ATM)	XP_011541144.1:n.7465-17_7465-16del
XM_011542843.1:c.7630-17_7630-16del (ATM)	XP_011541145.1:n.7630-17_7630-16del
XM_011542844.1:c.6586-17_6586-16del (ATM)	XP_011541146.1:n.6586-17_6586-16del
XM_011542845.1:c.6322-17_6322-16del (ATM)	XP_011541147.1:n.6322-17_6322-16del
XM_011542847.1:c.2701-17_2701-16del (ATM)	XP_011541149.1:n.2701-17_2701-16del
NM_001330368.1:c.641-22791_641-22790del (C11orf65)	NP_001317297.1:n.641-22791_641-22790del
NM_001351110.1:c.*38+3358_*38+3359del (C11orf65)	NP_001338039.1:n.*38+3358_*38+3359del
NM_001351834.1:c.7630-17_7630-16del (ATM)	NP_001338763.1:n.7630-17_7630-16del
NR_147053.2:n.2375-295_2375-294del (C11orf65)
XM_005271414.4:c.*39-295_*39-294del (C11orf65)	XP_005271471.1:n.*39-295_*39-294del
XM_005271415.4:c.805-295_805-294del (C11orf65)	XP_005271472.1:n.805-295_805-294del
XM_005271562.5:c.7630-17_7630-16del (ATM)	XP_005271619.2:n.7630-17_7630-16del
XM_006718843.4:c.7630-17_7630-16del (ATM)	XP_006718906.1:n.7630-17_7630-16del
XM_006718845.2:c.3586-17_3586-16del (ATM)	XP_006718908.1:n.3586-17_3586-16del
XM_011542840.3:c.7630-17_7630-16del (ATM)	XP_011541142.1:n.7630-17_7630-16del
XM_011542842.3:c.7465-17_7465-16del (ATM)	XP_011541144.1:n.7465-17_7465-16del
XM_011542843.2:c.7630-17_7630-16del (ATM)	XP_011541145.1:n.7630-17_7630-16del
XM_011542844.3:c.6586-17_6586-16del (ATM)	XP_011541146.1:n.6586-17_6586-16del
XM_011542845.2:c.6322-17_6322-16del (ATM)	XP_011541147.1:n.6322-17_6322-16del
XM_017017789.2:c.7630-17_7630-16del (ATM)	XP_016873278.1:n.7630-17_7630-16del
XM_017017790.2:c.7630-17_7630-16del (ATM)	XP_016873279.1:n.7630-17_7630-16del
NM_001330368.2:c.641-22791_641-22790del (C11orf65)	NP_001317297.1:n.641-22791_641-22790del
NM_001351110.2:c.*38+3358_*38+3359del (C11orf65)	NP_001338039.1:n.*38+3358_*38+3359del
NM_001351834.2:c.7630-17_7630-16del (ATM)	NP_001338763.1:n.7630-17_7630-16del
NM_000051.4:c.7630-17_7630-16del (ATM) MANE Select	NP_000042.3:n.7630-17_7630-16del
NR_147053.3:n.2373-295_2373-294del (C11orf65)