Canonical Allele Identifier: CA6265889

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs768999198
• ExAC: 11:108188072 AC / A
• gnomAD v2: 11-108188072-AC-A
• gnomAD v4: 11-108317345-AC-A
• MyVariant Identifiers: chr11:g.108188073del (hg19) ; chr11:g.108317346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108317346del , CM000673.2:g.108317346del	GRCh38
NC_000011.9:g.108188073del , CM000673.1:g.108188073del	GRCh37
NC_000011.8:g.107693283del	NCBI36
NG_009830.1:g.99515del , LRG_135:g.99515del
NG_054724.1:g.157487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6199-27del (ATM)	ENSP00000388058.2:n.6199-27del
ENST00000713593.1:c.*5670-27del (ATM)	ENSP00000518889.1:n.*5670-27del
ENST00000278616.9:c.6199-27del (ATM)	ENSP00000278616.4:n.6199-27del
ENST00000525056.2:n.618-27del (ATM)
ENST00000682286.1:n.956-27del (ATM)
ENST00000682302.1:n.617-27del (ATM)
ENST00000683174.1:n.7683-27del (ATM)
ENST00000683524.1:n.1423-27del (ATM)
ENST00000684152.1:n.1913-27del (ATM)
ENST00000527805.6:c.*1263-27del (ATM)	ENSP00000435747.2:n.*1263-27del
ENST00000675595.1:c.*1263-27del (ATM)	ENSP00000502563.1:n.*1263-27del
ENST00000675843.1:c.6199-27del (ATM) MANE Select	ENSP00000501606.1:n.6199-27del
ENST00000278616.8:c.6199-27del (ATM)	ENSP00000278616.4:n.6199-27del
ENST00000452508.6:c.6199-27del (ATM)	ENSP00000388058.2:n.6199-27del
ENST00000524792.5:n.2414-27del (ATM)
ENST00000525729.5:c.641-8275del (C11orf65)	ENSP00000433395.1:n.641-8275del
ENST00000532765.1:n.516-27del (ATM)
ENST00000533690.5:n.1603-27del (ATM)
NM_000051.3:c.6199-27del , LRG_135t1:c.6199-27del (ATM)	NP_000042.3:n.6199-27del
XM_005271561.3:c.6199-27del (ATM)	XP_005271618.2:n.6199-27del
XM_005271562.3:c.6199-27del (ATM)	XP_005271619.2:n.6199-27del
XM_006718843.2:c.6199-27del (ATM)	XP_006718906.1:n.6199-27del
XM_006718845.1:c.2155-27del (ATM)	XP_006718908.1:n.2155-27del
XM_011542840.1:c.6199-27del (ATM)	XP_011541142.1:n.6199-27del
XM_011542841.1:c.6199-27del (ATM)	XP_011541143.1:n.6199-27del
XM_011542842.1:c.6034-27del (ATM)	XP_011541144.1:n.6034-27del
XM_011542843.1:c.6199-27del (ATM)	XP_011541145.1:n.6199-27del
XM_011542844.1:c.5155-27del (ATM)	XP_011541146.1:n.5155-27del
XM_011542845.1:c.4891-27del (ATM)	XP_011541147.1:n.4891-27del
XM_011542847.1:c.1270-27del (ATM)	XP_011541149.1:n.1270-27del
NM_001330368.1:c.641-8275del (C11orf65)	NP_001317297.1:n.641-8275del
NM_001351110.1:c.*39-8275del (C11orf65)	NP_001338039.1:n.*39-8275del
NM_001351834.1:c.6199-27del (ATM)	NP_001338763.1:n.6199-27del
XM_005271562.5:c.6199-27del (ATM)	XP_005271619.2:n.6199-27del
XM_006718843.4:c.6199-27del (ATM)	XP_006718906.1:n.6199-27del
XM_006718845.2:c.2155-27del (ATM)	XP_006718908.1:n.2155-27del
XM_011542840.3:c.6199-27del (ATM)	XP_011541142.1:n.6199-27del
XM_011542842.3:c.6034-27del (ATM)	XP_011541144.1:n.6034-27del
XM_011542843.2:c.6199-27del (ATM)	XP_011541145.1:n.6199-27del
XM_011542844.3:c.5155-27del (ATM)	XP_011541146.1:n.5155-27del
XM_011542845.2:c.4891-27del (ATM)	XP_011541147.1:n.4891-27del
XM_017017789.2:c.6199-27del (ATM)	XP_016873278.1:n.6199-27del
XM_017017790.2:c.6199-27del (ATM)	XP_016873279.1:n.6199-27del
XM_017017791.1:c.6199-27del (ATM)	XP_016873280.1:n.6199-27del
NM_001330368.2:c.641-8275del (C11orf65)	NP_001317297.1:n.641-8275del
NM_001351110.2:c.*39-8275del (C11orf65)	NP_001338039.1:n.*39-8275del
NM_001351834.2:c.6199-27del (ATM)	NP_001338763.1:n.6199-27del
NM_000051.4:c.6199-27del (ATM) MANE Select	NP_000042.3:n.6199-27del