Canonical Allele Identifier: CA658656219

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 479029
• ClinVar RCV Id: RCV000573555 ; RCV001858066 ; RCV003470808 ; RCV004525975
• dbSNP Id: rs1555116381
• gnomAD v4: 11-108319974-GTT-G
• MyVariant Identifiers: chr11:g.108190702_108190703del (hg19) ; chr11:g.108319975_108319976del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319975_108319976del , CM000673.2:g.108319975_108319976del	GRCh38
NC_000011.9:g.108190702_108190703del , CM000673.1:g.108190702_108190703del	GRCh37
NC_000011.8:g.107695912_107695913del	NCBI36
NG_009830.1:g.102144_102145del , LRG_135:g.102144_102145del
NG_054724.1:g.154857_154858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6369_6370del (ATM)	ENSP00000388058.2:p.Ser2123ArgfsTer3
ENST00000713593.1:c.*5840_*5841del (ATM)	ENSP00000518889.1:n.*5840_*5841del
ENST00000278616.9:c.6369_6370del (ATM)	ENSP00000278616.4:p.Ser2123ArgfsTer3
ENST00000525056.2:n.788_789del (ATM)
ENST00000682286.1:n.1126_1127del (ATM)
ENST00000682302.1:n.787_788del (ATM)
ENST00000683174.1:n.7853_7854del (ATM)
ENST00000683524.1:n.1593_1594del (ATM)
ENST00000684152.1:n.2083_2084del (ATM)
ENST00000527805.6:c.*1433_*1434del (ATM)	ENSP00000435747.2:n.*1433_*1434del
ENST00000675595.1:c.*1433_*1434del (ATM)	ENSP00000502563.1:n.*1433_*1434del
ENST00000675843.1:c.6369_6370del (ATM) MANE Select	ENSP00000501606.1:p.Ser2123ArgfsTer3
ENST00000278616.8:c.6369_6370del (ATM)	ENSP00000278616.4:p.Ser2123ArgfsTer3
ENST00000452508.6:c.6369_6370del (ATM)	ENSP00000388058.2:p.Ser2123ArgfsTer3
ENST00000524792.5:n.2584_2585del (ATM)
ENST00000525729.5:c.641-10905_641-10904del (C11orf65)	ENSP00000433395.1:n.641-10905_641-10904del
ENST00000533690.5:n.1773_1774del (ATM)
NM_000051.3:c.6369_6370del , LRG_135t1:c.6369_6370del (ATM)	NP_000042.3:p.Ser2123ArgfsTer3
XM_005271561.3:c.6369_6370del (ATM)	XP_005271618.2:p.Ser2123ArgfsTer3
XM_005271562.3:c.6369_6370del (ATM)	XP_005271619.2:p.Ser2123ArgfsTer3
XM_006718843.2:c.6369_6370del (ATM)	XP_006718906.1:p.Ser2123ArgfsTer3
XM_006718845.1:c.2325_2326del (ATM)	XP_006718908.1:p.Ser775ArgfsTer3
XM_011542840.1:c.6369_6370del (ATM)	XP_011541142.1:p.Ser2123ArgfsTer3
XM_011542841.1:c.6369_6370del (ATM)	XP_011541143.1:p.Ser2123ArgfsTer3
XM_011542842.1:c.6204_6205del (ATM)	XP_011541144.1:p.Ser2068ArgfsTer3
XM_011542843.1:c.6369_6370del (ATM)	XP_011541145.1:p.Ser2123ArgfsTer3
XM_011542844.1:c.5325_5326del (ATM)	XP_011541146.1:p.Ser1775ArgfsTer3
XM_011542845.1:c.5061_5062del (ATM)	XP_011541147.1:p.Ser1687ArgfsTer3
XM_011542847.1:c.1440_1441del (ATM)	XP_011541149.1:p.Ser480ArgfsTer3
NM_001330368.1:c.641-10905_641-10904del (C11orf65)	NP_001317297.1:n.641-10905_641-10904del
NM_001351110.1:c.*39-10905_*39-10904del (C11orf65)	NP_001338039.1:n.*39-10905_*39-10904del
NM_001351834.1:c.6369_6370del (ATM)	NP_001338763.1:p.Ser2123ArgfsTer3
XM_005271562.5:c.6369_6370del (ATM)	XP_005271619.2:p.Ser2123ArgfsTer3
XM_006718843.4:c.6369_6370del (ATM)	XP_006718906.1:p.Ser2123ArgfsTer3
XM_006718845.2:c.2325_2326del (ATM)	XP_006718908.1:p.Ser775ArgfsTer3
XM_011542840.3:c.6369_6370del (ATM)	XP_011541142.1:p.Ser2123ArgfsTer3
XM_011542842.3:c.6204_6205del (ATM)	XP_011541144.1:p.Ser2068ArgfsTer3
XM_011542843.2:c.6369_6370del (ATM)	XP_011541145.1:p.Ser2123ArgfsTer3
XM_011542844.3:c.5325_5326del (ATM)	XP_011541146.1:p.Ser1775ArgfsTer3
XM_011542845.2:c.5061_5062del (ATM)	XP_011541147.1:p.Ser1687ArgfsTer3
XM_017017789.2:c.6369_6370del (ATM)	XP_016873278.1:p.Ser2123ArgfsTer3
XM_017017790.2:c.6369_6370del (ATM)	XP_016873279.1:p.Ser2123ArgfsTer3
XM_017017791.1:c.6369_6370del (ATM)	XP_016873280.1:p.Ser2123ArgfsTer3
NM_001330368.2:c.641-10905_641-10904del (C11orf65)	NP_001317297.1:n.641-10905_641-10904del
NM_001351110.2:c.*39-10905_*39-10904del (C11orf65)	NP_001338039.1:n.*39-10905_*39-10904del
NM_001351834.2:c.6369_6370del (ATM)	NP_001338763.1:p.Ser2123ArgfsTer3
NM_000051.4:c.6369_6370del (ATM) MANE Select	NP_000042.3:p.Ser2123ArgfsTer3