Canonical Allele Identifier: CA2697558931

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2756584
• ClinVar RCV Id: RCV003500149

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321350_108321356del , CM000673.2:g.108321350_108321356del	GRCh38
NC_000011.9:g.108192077_108192083del , CM000673.1:g.108192077_108192083del	GRCh37
NC_000011.8:g.107697287_107697293del	NCBI36
NG_009830.1:g.103519_103525del , LRG_135:g.103519_103525del
NG_054724.1:g.153478_153484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6502_6508del (ATM)	ENSP00000388058.2:p.Ser2168IlefsTer?
ENST00000713593.1:c.*5973_*5979del (ATM)	ENSP00000518889.1:n.*5973_*5979del
ENST00000278616.9:c.6502_6508del (ATM)	ENSP00000278616.4:p.Ser2168IlefsTer?
ENST00000525056.2:n.921_927del (ATM)
ENST00000682286.1:n.1259_1265del (ATM)
ENST00000682302.1:n.920_926del (ATM)
ENST00000683174.1:n.7986_7992del (ATM)
ENST00000683524.1:n.1726_1732del (ATM)
ENST00000684152.1:n.2216_2222del (ATM)
ENST00000527805.6:c.*1566_*1572del (ATM)	ENSP00000435747.2:n.*1566_*1572del
ENST00000675595.1:c.*1637_*1643del (ATM)	ENSP00000502563.1:n.*1637_*1643del
ENST00000675843.1:c.6502_6508del (ATM) MANE Select	ENSP00000501606.1:p.Ser2168IlefsTer?
ENST00000278616.8:c.6502_6508del (ATM)	ENSP00000278616.4:p.Ser2168IlefsTer?
ENST00000452508.6:c.6502_6508del (ATM)	ENSP00000388058.2:p.Ser2168IlefsTer?
ENST00000524792.5:n.2717_2723del (ATM)
ENST00000525729.5:c.641-12284_641-12278del (C11orf65)	ENSP00000433395.1:n.641-12284_641-12278del
ENST00000533690.5:n.1906_1912del (ATM)
NM_000051.3:c.6502_6508del , LRG_135t1:c.6502_6508del (ATM)	NP_000042.3:p.Ser2168IlefsTer?
XM_005271561.3:c.6502_6508del (ATM)	XP_005271618.2:p.Ser2168IlefsTer?
XM_005271562.3:c.6502_6508del (ATM)	XP_005271619.2:p.Ser2168IlefsTer?
XM_006718843.2:c.6502_6508del (ATM)	XP_006718906.1:p.Ser2168IlefsTer?
XM_006718845.1:c.2458_2464del (ATM)	XP_006718908.1:p.Ser820IlefsTer?
XM_011542840.1:c.6502_6508del (ATM)	XP_011541142.1:p.Ser2168IlefsTer?
XM_011542841.1:c.6502_6508del (ATM)	XP_011541143.1:p.Ser2168IlefsTer?
XM_011542842.1:c.6337_6343del (ATM)	XP_011541144.1:p.Ser2113IlefsTer?
XM_011542843.1:c.6502_6508del (ATM)	XP_011541145.1:p.Ser2168IlefsTer?
XM_011542844.1:c.5458_5464del (ATM)	XP_011541146.1:p.Ser1820IlefsTer?
XM_011542845.1:c.5194_5200del (ATM)	XP_011541147.1:p.Ser1732IlefsTer?
XM_011542847.1:c.1573_1579del (ATM)	XP_011541149.1:p.Ser525IlefsTer?
NM_001330368.1:c.641-12284_641-12278del (C11orf65)	NP_001317297.1:n.641-12284_641-12278del
NM_001351110.1:c.*39-12284_*39-12278del (C11orf65)	NP_001338039.1:n.*39-12284_*39-12278del
NM_001351834.1:c.6502_6508del (ATM)	NP_001338763.1:p.Ser2168IlefsTer?
XM_005271562.5:c.6502_6508del (ATM)	XP_005271619.2:p.Ser2168IlefsTer?
XM_006718843.4:c.6502_6508del (ATM)	XP_006718906.1:p.Ser2168IlefsTer?
XM_006718845.2:c.2458_2464del (ATM)	XP_006718908.1:p.Ser820IlefsTer?
XM_011542840.3:c.6502_6508del (ATM)	XP_011541142.1:p.Ser2168IlefsTer?
XM_011542842.3:c.6337_6343del (ATM)	XP_011541144.1:p.Ser2113IlefsTer?
XM_011542843.2:c.6502_6508del (ATM)	XP_011541145.1:p.Ser2168IlefsTer?
XM_011542844.3:c.5458_5464del (ATM)	XP_011541146.1:p.Ser1820IlefsTer?
XM_011542845.2:c.5194_5200del (ATM)	XP_011541147.1:p.Ser1732IlefsTer?
XM_017017789.2:c.6502_6508del (ATM)	XP_016873278.1:p.Ser2168IlefsTer?
XM_017017790.2:c.6502_6508del (ATM)	XP_016873279.1:p.Ser2168IlefsTer?
NM_001330368.2:c.641-12284_641-12278del (C11orf65)	NP_001317297.1:n.641-12284_641-12278del
NM_001351110.2:c.*39-12284_*39-12278del (C11orf65)	NP_001338039.1:n.*39-12284_*39-12278del
NM_001351834.2:c.6502_6508del (ATM)	NP_001338763.1:p.Ser2168IlefsTer?
NM_000051.4:c.6502_6508del (ATM) MANE Select	NP_000042.3:p.Ser2168IlefsTer?