Canonical Allele Identifier: CA2499220684

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1075306
• ClinVar RCV Id: RCV001388865
• dbSNP Id: rs2136220112

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319994_108319998del , CM000673.2:g.108319994_108319998del	GRCh38
NC_000011.9:g.108190721_108190725del , CM000673.1:g.108190721_108190725del	GRCh37
NC_000011.8:g.107695931_107695935del	NCBI36
NG_009830.1:g.102163_102167del , LRG_135:g.102163_102167del
NG_054724.1:g.154836_154840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6388_6392del (ATM)	ENSP00000388058.2:p.Asn2130SerfsTer14
ENST00000713593.1:c.*5859_*5863del (ATM)	ENSP00000518889.1:n.*5859_*5863del
ENST00000278616.9:c.6388_6392del (ATM)	ENSP00000278616.4:p.Asn2130SerfsTer14
ENST00000525056.2:n.807_811del (ATM)
ENST00000682286.1:n.1145_1149del (ATM)
ENST00000682302.1:n.806_810del (ATM)
ENST00000683174.1:n.7872_7876del (ATM)
ENST00000683524.1:n.1612_1616del (ATM)
ENST00000684152.1:n.2102_2106del (ATM)
ENST00000527805.6:c.*1452_*1456del (ATM)	ENSP00000435747.2:n.*1452_*1456del
ENST00000675595.1:c.*1452_*1456del (ATM)	ENSP00000502563.1:n.*1452_*1456del
ENST00000675843.1:c.6388_6392del (ATM) MANE Select	ENSP00000501606.1:p.Asn2130SerfsTer14
ENST00000278616.8:c.6388_6392del (ATM)	ENSP00000278616.4:p.Asn2130SerfsTer14
ENST00000452508.6:c.6388_6392del (ATM)	ENSP00000388058.2:p.Asn2130SerfsTer14
ENST00000524792.5:n.2603_2607del (ATM)
ENST00000525729.5:c.641-10926_641-10922del (C11orf65)	ENSP00000433395.1:n.641-10926_641-10922del
ENST00000533690.5:n.1792_1796del (ATM)
NM_000051.3:c.6388_6392del , LRG_135t1:c.6388_6392del (ATM)	NP_000042.3:p.Asn2130SerfsTer14
XM_005271561.3:c.6388_6392del (ATM)	XP_005271618.2:p.Asn2130SerfsTer14
XM_005271562.3:c.6388_6392del (ATM)	XP_005271619.2:p.Asn2130SerfsTer14
XM_006718843.2:c.6388_6392del (ATM)	XP_006718906.1:p.Asn2130SerfsTer14
XM_006718845.1:c.2344_2348del (ATM)	XP_006718908.1:p.Asn782SerfsTer14
XM_011542840.1:c.6388_6392del (ATM)	XP_011541142.1:p.Asn2130SerfsTer14
XM_011542841.1:c.6388_6392del (ATM)	XP_011541143.1:p.Asn2130SerfsTer14
XM_011542842.1:c.6223_6227del (ATM)	XP_011541144.1:p.Asn2075SerfsTer14
XM_011542843.1:c.6388_6392del (ATM)	XP_011541145.1:p.Asn2130SerfsTer14
XM_011542844.1:c.5344_5348del (ATM)	XP_011541146.1:p.Asn1782SerfsTer14
XM_011542845.1:c.5080_5084del (ATM)	XP_011541147.1:p.Asn1694SerfsTer14
XM_011542847.1:c.1459_1463del (ATM)	XP_011541149.1:p.Asn487SerfsTer14
NM_001330368.1:c.641-10926_641-10922del (C11orf65)	NP_001317297.1:n.641-10926_641-10922del
NM_001351110.1:c.*39-10926_*39-10922del (C11orf65)	NP_001338039.1:n.*39-10926_*39-10922del
NM_001351834.1:c.6388_6392del (ATM)	NP_001338763.1:p.Asn2130SerfsTer14
XM_005271562.5:c.6388_6392del (ATM)	XP_005271619.2:p.Asn2130SerfsTer14
XM_006718843.4:c.6388_6392del (ATM)	XP_006718906.1:p.Asn2130SerfsTer14
XM_006718845.2:c.2344_2348del (ATM)	XP_006718908.1:p.Asn782SerfsTer14
XM_011542840.3:c.6388_6392del (ATM)	XP_011541142.1:p.Asn2130SerfsTer14
XM_011542842.3:c.6223_6227del (ATM)	XP_011541144.1:p.Asn2075SerfsTer14
XM_011542843.2:c.6388_6392del (ATM)	XP_011541145.1:p.Asn2130SerfsTer14
XM_011542844.3:c.5344_5348del (ATM)	XP_011541146.1:p.Asn1782SerfsTer14
XM_011542845.2:c.5080_5084del (ATM)	XP_011541147.1:p.Asn1694SerfsTer14
XM_017017789.2:c.6388_6392del (ATM)	XP_016873278.1:p.Asn2130SerfsTer14
XM_017017790.2:c.6388_6392del (ATM)	XP_016873279.1:p.Asn2130SerfsTer14
XM_017017791.1:c.6388_6392del (ATM)	XP_016873280.1:p.Asn2130SerfsTer14
NM_001330368.2:c.641-10926_641-10922del (C11orf65)	NP_001317297.1:n.641-10926_641-10922del
NM_001351110.2:c.*39-10926_*39-10922del (C11orf65)	NP_001338039.1:n.*39-10926_*39-10922del
NM_001351834.2:c.6388_6392del (ATM)	NP_001338763.1:p.Asn2130SerfsTer14
NM_000051.4:c.6388_6392del (ATM) MANE Select	NP_000042.3:p.Asn2130SerfsTer14