Canonical Allele Identifier: CA2739266025

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2840165
• ClinVar RCV Id: RCV003605115

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108320017_108320020del , CM000673.2:g.108320017_108320020del	GRCh38
NC_000011.9:g.108190744_108190747del , CM000673.1:g.108190744_108190747del	GRCh37
NC_000011.8:g.107695954_107695957del	NCBI36
NG_009830.1:g.102186_102189del , LRG_135:g.102186_102189del
NG_054724.1:g.154816_154819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6411_6414del (ATM)	ENSP00000388058.2:p.Asp2137GlufsTer15
ENST00000713593.1:c.*5882_*5885del (ATM)	ENSP00000518889.1:n.*5882_*5885del
ENST00000278616.9:c.6411_6414del (ATM)	ENSP00000278616.4:p.Asp2137GlufsTer15
ENST00000525056.2:n.830_833del (ATM)
ENST00000682286.1:n.1168_1171del (ATM)
ENST00000682302.1:n.829_832del (ATM)
ENST00000683174.1:n.7895_7898del (ATM)
ENST00000683524.1:n.1635_1638del (ATM)
ENST00000684152.1:n.2125_2128del (ATM)
ENST00000527805.6:c.*1475_*1478del (ATM)	ENSP00000435747.2:n.*1475_*1478del
ENST00000675595.1:c.*1475_*1478del (ATM)	ENSP00000502563.1:n.*1475_*1478del
ENST00000675843.1:c.6411_6414del (ATM) MANE Select	ENSP00000501606.1:p.Asp2137GlufsTer15
ENST00000278616.8:c.6411_6414del (ATM)	ENSP00000278616.4:p.Asp2137GlufsTer15
ENST00000452508.6:c.6411_6414del (ATM)	ENSP00000388058.2:p.Asp2137GlufsTer15
ENST00000524792.5:n.2626_2629del (ATM)
ENST00000525729.5:c.641-10946_641-10943del (C11orf65)	ENSP00000433395.1:n.641-10946_641-10943de...
ENST00000533690.5:n.1815_1818del (ATM)
NM_000051.3:c.6411_6414del , LRG_135t1:c.6411_6414del (ATM)	NP_000042.3:p.Asp2137GlufsTer15
XM_005271561.3:c.6411_6414del (ATM)	XP_005271618.2:p.Asp2137GlufsTer15
XM_005271562.3:c.6411_6414del (ATM)	XP_005271619.2:p.Asp2137GlufsTer15
XM_006718843.2:c.6411_6414del (ATM)	XP_006718906.1:p.Asp2137GlufsTer15
XM_006718845.1:c.2367_2370del (ATM)	XP_006718908.1:p.Asp789GlufsTer15
XM_011542840.1:c.6411_6414del (ATM)	XP_011541142.1:p.Asp2137GlufsTer15
XM_011542841.1:c.6411_6414del (ATM)	XP_011541143.1:p.Asp2137GlufsTer15
XM_011542842.1:c.6246_6249del (ATM)	XP_011541144.1:p.Asp2082GlufsTer15
XM_011542843.1:c.6411_6414del (ATM)	XP_011541145.1:p.Asp2137GlufsTer15
XM_011542844.1:c.5367_5370del (ATM)	XP_011541146.1:p.Asp1789GlufsTer15
XM_011542845.1:c.5103_5106del (ATM)	XP_011541147.1:p.Asp1701GlufsTer15
XM_011542847.1:c.1482_1485del (ATM)	XP_011541149.1:p.Asp494GlufsTer15
NM_001330368.1:c.641-10946_641-10943del (C11orf65)	NP_001317297.1:n.641-10946_641-10943del
NM_001351110.1:c.*39-10946_*39-10943del (C11orf65)	NP_001338039.1:n.*39-10946_*39-10943del
NM_001351834.1:c.6411_6414del (ATM)	NP_001338763.1:p.Asp2137GlufsTer15
XM_005271562.5:c.6411_6414del (ATM)	XP_005271619.2:p.Asp2137GlufsTer15
XM_006718843.4:c.6411_6414del (ATM)	XP_006718906.1:p.Asp2137GlufsTer15
XM_006718845.2:c.2367_2370del (ATM)	XP_006718908.1:p.Asp789GlufsTer15
XM_011542840.3:c.6411_6414del (ATM)	XP_011541142.1:p.Asp2137GlufsTer15
XM_011542842.3:c.6246_6249del (ATM)	XP_011541144.1:p.Asp2082GlufsTer15
XM_011542843.2:c.6411_6414del (ATM)	XP_011541145.1:p.Asp2137GlufsTer15
XM_011542844.3:c.5367_5370del (ATM)	XP_011541146.1:p.Asp1789GlufsTer15
XM_011542845.2:c.5103_5106del (ATM)	XP_011541147.1:p.Asp1701GlufsTer15
XM_017017789.2:c.6411_6414del (ATM)	XP_016873278.1:p.Asp2137GlufsTer15
XM_017017790.2:c.6411_6414del (ATM)	XP_016873279.1:p.Asp2137GlufsTer15
XM_017017791.1:c.6411_6414del (ATM)	XP_016873280.1:p.Asp2137GlufsTer?
NM_001330368.2:c.641-10946_641-10943del (C11orf65)	NP_001317297.1:n.641-10946_641-10943del
NM_001351110.2:c.*39-10946_*39-10943del (C11orf65)	NP_001338039.1:n.*39-10946_*39-10943del
NM_001351834.2:c.6411_6414del (ATM)	NP_001338763.1:p.Asp2137GlufsTer15
NM_000051.4:c.6411_6414del (ATM) MANE Select	NP_000042.3:p.Asp2137GlufsTer15