Canonical Allele Identifier: CA1139662267

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 873413
• ClinVar RCV Id: RCV001171407
• dbSNP Id: rs2085827807

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327759_108327796del , CM000673.2:g.108327759_108327796del	GRCh38
NC_000011.9:g.108198486_108198523del , CM000673.1:g.108198486_108198523del	GRCh37
NC_000011.8:g.107703696_107703733del	NCBI36
NG_009830.1:g.109928_109965del , LRG_135:g.109928_109965del
NG_054724.1:g.147039_147076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7089+1_7089+38del (ATM)
ENST00000713593.1:c.*6560+1_*6560+38del (ATM)
ENST00000278616.9:c.7089+1_7089+38del (ATM)
ENST00000525056.2:n.1508+1_1508+38del (ATM)
ENST00000525537.3:n.46+1_46+38del (ATM)
ENST00000682286.1:n.1846+1_1846+38del (ATM)
ENST00000682302.1:n.1507+1_1507+38del (ATM)
ENST00000683174.1:n.8573+1_8573+38del (ATM)
ENST00000683524.1:n.2313+1_2313+38del (ATM)
ENST00000684152.1:n.2803+1_2803+38del (ATM)
ENST00000684447.1:n.1552+1_1552+38del (ATM)
ENST00000527805.6:c.*2153+1_*2153+38del (ATM)
ENST00000675595.1:c.*2224+1_*2224+38del (ATM)
ENST00000675843.1:c.7089+1_7089+38del (ATM)
ENST00000278616.8:c.7089+1_7089+38del (ATM)
ENST00000452508.6:c.7089+1_7089+38del (ATM)
ENST00000524792.5:n.3304+1_3304+38del (ATM)
ENST00000525537.2:n.365+1_365+38del (ATM)
ENST00000525729.5:c.641-18723_641-18686del (C11orf65)	ENSP00000433395.1:n.641-18723_641-18686de...
ENST00000527389.2:n.114+1_114+38del (ATM)
ENST00000533690.5:n.2493+1_2493+38del (ATM)
NM_000051.3:c.7089+1_7089+38del , LRG_135t1:c.7089+1_7089+38del (ATM)
XM_005271561.3:c.7089+1_7089+38del (ATM)
XM_005271562.3:c.7089+1_7089+38del (ATM)
XM_006718843.2:c.7089+1_7089+38del (ATM)
XM_006718845.1:c.3045+1_3045+38del (ATM)
XM_011542840.1:c.7089+1_7089+38del (ATM)
XM_011542841.1:c.7089+1_7089+38del (ATM)
XM_011542842.1:c.6924+1_6924+38del (ATM)
XM_011542843.1:c.7089+1_7089+38del (ATM)
XM_011542844.1:c.6045+1_6045+38del (ATM)
XM_011542845.1:c.5781+1_5781+38del (ATM)
XM_011542847.1:c.2160+1_2160+38del (ATM)
NM_001330368.1:c.641-18723_641-18686del (C11orf65)	NP_001317297.1:n.641-18723_641-18686del
NM_001351110.1:c.*38+7426_*38+7463del (C11orf65)	NP_001338039.1:n.*38+7426_*38+7463del
NM_001351834.1:c.7089+1_7089+38del (ATM)
XM_005271562.5:c.7089+1_7089+38del (ATM)
XM_006718843.4:c.7089+1_7089+38del (ATM)
XM_006718845.2:c.3045+1_3045+38del (ATM)
XM_011542840.3:c.7089+1_7089+38del (ATM)
XM_011542842.3:c.6924+1_6924+38del (ATM)
XM_011542843.2:c.7089+1_7089+38del (ATM)
XM_011542844.3:c.6045+1_6045+38del (ATM)
XM_011542845.2:c.5781+1_5781+38del (ATM)
XM_017017789.2:c.7089+1_7089+38del (ATM)
XM_017017790.2:c.7089+1_7089+38del (ATM)
NM_001330368.2:c.641-18723_641-18686del (C11orf65)	NP_001317297.1:n.641-18723_641-18686del
NM_001351110.2:c.*38+7426_*38+7463del (C11orf65)	NP_001338039.1:n.*38+7426_*38+7463del
NM_001351834.2:c.7089+1_7089+38del (ATM)
NM_000051.4:c.7089+1_7089+38del (ATM)