Canonical Allele Identifier: CA942022125

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2084735028
• gnomAD v3: 11-108317115-AAAATTG-A
• gnomAD v4: 11-108317115-AAAATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108317116_108317121del , CM000673.2:g.108317116_108317121del	GRCh38
NC_000011.9:g.108187843_108187848del , CM000673.1:g.108187843_108187848del	GRCh37
NC_000011.8:g.107693053_107693058del	NCBI36
NG_009830.1:g.99285_99290del , LRG_135:g.99285_99290del
NG_054724.1:g.157712_157717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6199-257_6199-252del (ATM)	ENSP00000388058.2:n.6199-257_6199-252del
ENST00000713593.1:c.*5670-257_*5670-252del (ATM)	ENSP00000518889.1:n.*5670-257_*5670-252del
ENST00000278616.9:c.6199-257_6199-252del (ATM)	ENSP00000278616.4:n.6199-257_6199-252del
ENST00000525056.2:n.618-257_618-252del (ATM)
ENST00000682286.1:n.956-257_956-252del (ATM)
ENST00000682302.1:n.617-257_617-252del (ATM)
ENST00000683174.1:n.7683-257_7683-252del (ATM)
ENST00000683524.1:n.1423-257_1423-252del (ATM)
ENST00000684152.1:n.1913-257_1913-252del (ATM)
ENST00000527805.6:c.*1263-257_*1263-252del (ATM)	ENSP00000435747.2:n.*1263-257_*1263-252del
ENST00000675595.1:c.*1263-257_*1263-252del (ATM)	ENSP00000502563.1:n.*1263-257_*1263-252del
ENST00000675843.1:c.6199-257_6199-252del (ATM) MANE Select	ENSP00000501606.1:n.6199-257_6199-252del
ENST00000278616.8:c.6199-257_6199-252del (ATM)	ENSP00000278616.4:n.6199-257_6199-252del
ENST00000452508.6:c.6199-257_6199-252del (ATM)	ENSP00000388058.2:n.6199-257_6199-252del
ENST00000524792.5:n.2414-257_2414-252del (ATM)
ENST00000525729.5:c.641-8050_641-8045del (C11orf65)	ENSP00000433395.1:n.641-8050_641-8045del
ENST00000532765.1:n.516-257_516-252del (ATM)
ENST00000533690.5:n.1603-257_1603-252del (ATM)
NM_000051.3:c.6199-257_6199-252del , LRG_135t1:c.6199-257_6199-252del (ATM)	NP_000042.3:n.6199-257_6199-252del
XM_005271561.3:c.6199-257_6199-252del (ATM)	XP_005271618.2:n.6199-257_6199-252del
XM_005271562.3:c.6199-257_6199-252del (ATM)	XP_005271619.2:n.6199-257_6199-252del
XM_006718843.2:c.6199-257_6199-252del (ATM)	XP_006718906.1:n.6199-257_6199-252del
XM_006718845.1:c.2155-257_2155-252del (ATM)	XP_006718908.1:n.2155-257_2155-252del
XM_011542840.1:c.6199-257_6199-252del (ATM)	XP_011541142.1:n.6199-257_6199-252del
XM_011542841.1:c.6199-257_6199-252del (ATM)	XP_011541143.1:n.6199-257_6199-252del
XM_011542842.1:c.6034-257_6034-252del (ATM)	XP_011541144.1:n.6034-257_6034-252del
XM_011542843.1:c.6199-257_6199-252del (ATM)	XP_011541145.1:n.6199-257_6199-252del
XM_011542844.1:c.5155-257_5155-252del (ATM)	XP_011541146.1:n.5155-257_5155-252del
XM_011542845.1:c.4891-257_4891-252del (ATM)	XP_011541147.1:n.4891-257_4891-252del
XM_011542847.1:c.1270-257_1270-252del (ATM)	XP_011541149.1:n.1270-257_1270-252del
NM_001330368.1:c.641-8050_641-8045del (C11orf65)	NP_001317297.1:n.641-8050_641-8045del
NM_001351110.1:c.*39-8050_*39-8045del (C11orf65)	NP_001338039.1:n.*39-8050_*39-8045del
NM_001351834.1:c.6199-257_6199-252del (ATM)	NP_001338763.1:n.6199-257_6199-252del
XM_005271562.5:c.6199-257_6199-252del (ATM)	XP_005271619.2:n.6199-257_6199-252del
XM_006718843.4:c.6199-257_6199-252del (ATM)	XP_006718906.1:n.6199-257_6199-252del
XM_006718845.2:c.2155-257_2155-252del (ATM)	XP_006718908.1:n.2155-257_2155-252del
XM_011542840.3:c.6199-257_6199-252del (ATM)	XP_011541142.1:n.6199-257_6199-252del
XM_011542842.3:c.6034-257_6034-252del (ATM)	XP_011541144.1:n.6034-257_6034-252del
XM_011542843.2:c.6199-257_6199-252del (ATM)	XP_011541145.1:n.6199-257_6199-252del
XM_011542844.3:c.5155-257_5155-252del (ATM)	XP_011541146.1:n.5155-257_5155-252del
XM_011542845.2:c.4891-257_4891-252del (ATM)	XP_011541147.1:n.4891-257_4891-252del
XM_017017789.2:c.6199-257_6199-252del (ATM)	XP_016873278.1:n.6199-257_6199-252del
XM_017017790.2:c.6199-257_6199-252del (ATM)	XP_016873279.1:n.6199-257_6199-252del
XM_017017791.1:c.6199-257_6199-252del (ATM)	XP_016873280.1:n.6199-257_6199-252del
NM_001330368.2:c.641-8050_641-8045del (C11orf65)	NP_001317297.1:n.641-8050_641-8045del
NM_001351110.2:c.*39-8050_*39-8045del (C11orf65)	NP_001338039.1:n.*39-8050_*39-8045del
NM_001351834.2:c.6199-257_6199-252del (ATM)	NP_001338763.1:n.6199-257_6199-252del
NM_000051.4:c.6199-257_6199-252del (ATM) MANE Select	NP_000042.3:n.6199-257_6199-252del