Canonical Allele Identifier: CA1998805488

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 959351
• ClinVar RCV Id: RCV001232688
• dbSNP Id: rs2085076333
• gnomAD v4: 11-108319955-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319959_108319961del , CM000673.2:g.108319959_108319961del	GRCh38
NC_000011.9:g.108190686_108190688del , CM000673.1:g.108190686_108190688del	GRCh37
NC_000011.8:g.107695896_107695898del	NCBI36
NG_009830.1:g.102128_102130del , LRG_135:g.102128_102130del
NG_054724.1:g.154875_154877del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6353_6355del (ATM)	ENSP00000388058.2:p.Glu2118del
ENST00000713593.1:c.*5824_*5826del (ATM)	ENSP00000518889.1:n.*5824_*5826del
ENST00000278616.9:c.6353_6355del (ATM)	ENSP00000278616.4:p.Glu2118del
ENST00000525056.2:n.772_774del (ATM)
ENST00000682286.1:n.1110_1112del (ATM)
ENST00000682302.1:n.771_773del (ATM)
ENST00000683174.1:n.7837_7839del (ATM)
ENST00000683524.1:n.1577_1579del (ATM)
ENST00000684152.1:n.2067_2069del (ATM)
ENST00000527805.6:c.*1417_*1419del (ATM)	ENSP00000435747.2:n.*1417_*1419del
ENST00000675595.1:c.*1417_*1419del (ATM)	ENSP00000502563.1:n.*1417_*1419del
ENST00000675843.1:c.6353_6355del (ATM) MANE Select	ENSP00000501606.1:p.Glu2118del
ENST00000278616.8:c.6353_6355del (ATM)	ENSP00000278616.4:p.Glu2118del
ENST00000452508.6:c.6353_6355del (ATM)	ENSP00000388058.2:p.Glu2118del
ENST00000524792.5:n.2568_2570del (ATM)
ENST00000525729.5:c.641-10887_641-10885del (C11orf65)	ENSP00000433395.1:n.641-10887_641-10885del
ENST00000533690.5:n.1757_1759del (ATM)
NM_000051.3:c.6353_6355del , LRG_135t1:c.6353_6355del (ATM)	NP_000042.3:p.Glu2118del
XM_005271561.3:c.6353_6355del (ATM)	XP_005271618.2:p.Glu2118del
XM_005271562.3:c.6353_6355del (ATM)	XP_005271619.2:p.Glu2118del
XM_006718843.2:c.6353_6355del (ATM)	XP_006718906.1:p.Glu2118del
XM_006718845.1:c.2309_2311del (ATM)	XP_006718908.1:p.Glu770del
XM_011542840.1:c.6353_6355del (ATM)	XP_011541142.1:p.Glu2118del
XM_011542841.1:c.6353_6355del (ATM)	XP_011541143.1:p.Glu2118del
XM_011542842.1:c.6188_6190del (ATM)	XP_011541144.1:p.Glu2063del
XM_011542843.1:c.6353_6355del (ATM)	XP_011541145.1:p.Glu2118del
XM_011542844.1:c.5309_5311del (ATM)	XP_011541146.1:p.Glu1770del
XM_011542845.1:c.5045_5047del (ATM)	XP_011541147.1:p.Glu1682del
XM_011542847.1:c.1424_1426del (ATM)	XP_011541149.1:p.Glu475del
NM_001330368.1:c.641-10887_641-10885del (C11orf65)	NP_001317297.1:n.641-10887_641-10885del
NM_001351110.1:c.*39-10887_*39-10885del (C11orf65)	NP_001338039.1:n.*39-10887_*39-10885del
NM_001351834.1:c.6353_6355del (ATM)	NP_001338763.1:p.Glu2118del
XM_005271562.5:c.6353_6355del (ATM)	XP_005271619.2:p.Glu2118del
XM_006718843.4:c.6353_6355del (ATM)	XP_006718906.1:p.Glu2118del
XM_006718845.2:c.2309_2311del (ATM)	XP_006718908.1:p.Glu770del
XM_011542840.3:c.6353_6355del (ATM)	XP_011541142.1:p.Glu2118del
XM_011542842.3:c.6188_6190del (ATM)	XP_011541144.1:p.Glu2063del
XM_011542843.2:c.6353_6355del (ATM)	XP_011541145.1:p.Glu2118del
XM_011542844.3:c.5309_5311del (ATM)	XP_011541146.1:p.Glu1770del
XM_011542845.2:c.5045_5047del (ATM)	XP_011541147.1:p.Glu1682del
XM_017017789.2:c.6353_6355del (ATM)	XP_016873278.1:p.Glu2118del
XM_017017790.2:c.6353_6355del (ATM)	XP_016873279.1:p.Glu2118del
XM_017017791.1:c.6353_6355del (ATM)	XP_016873280.1:p.Glu2118del
NM_001330368.2:c.641-10887_641-10885del (C11orf65)	NP_001317297.1:n.641-10887_641-10885del
NM_001351110.2:c.*39-10887_*39-10885del (C11orf65)	NP_001338039.1:n.*39-10887_*39-10885del
NM_001351834.2:c.6353_6355del (ATM)	NP_001338763.1:p.Glu2118del
NM_000051.4:c.6353_6355del (ATM) MANE Select	NP_000042.3:p.Glu2118del