Canonical Allele Identifier: CA2615860777

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108308891-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108308894_108308896del , CM000673.2:g.108308894_108308896del	GRCh38
NC_000011.9:g.108179621_108179623del , CM000673.1:g.108179621_108179623del	GRCh37
NC_000011.8:g.107684831_107684833del	NCBI36
NG_009830.1:g.91063_91065del , LRG_135:g.91063_91065del
NG_054724.1:g.165939_165941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5762+910_5762+912del (ATM)	ENSP00000388058.2:n.5762+910_5762+912del
ENST00000713593.1:c.*5233+910_*5233+912del (ATM)	ENSP00000518889.1:n.*5233+910_*5233+912del
ENST00000278616.9:c.5762+910_5762+912del (ATM)	ENSP00000278616.4:n.5762+910_5762+912del
ENST00000525056.2:n.181+910_181+912del (ATM)
ENST00000682286.1:n.519+910_519+912del (ATM)
ENST00000682302.1:n.180+910_180+912del (ATM)
ENST00000683174.1:n.7246+910_7246+912del (ATM)
ENST00000683524.1:n.986+910_986+912del (ATM)
ENST00000684152.1:n.1476+910_1476+912del (ATM)
ENST00000527805.6:c.*826+910_*826+912del (ATM)	ENSP00000435747.2:n.*826+910_*826+912del
ENST00000675595.1:c.*826+910_*826+912del (ATM)	ENSP00000502563.1:n.*826+910_*826+912del
ENST00000675843.1:c.5762+910_5762+912del (ATM) MANE Select	ENSP00000501606.1:n.5762+910_5762+912del
ENST00000278616.8:c.5762+910_5762+912del (ATM)	ENSP00000278616.4:n.5762+910_5762+912del
ENST00000452508.6:c.5762+910_5762+912del (ATM)	ENSP00000388058.2:n.5762+910_5762+912del
ENST00000524792.5:n.1977+910_1977+912del (ATM)
ENST00000525729.5:c.*77_*79del (C11orf65)	ENSP00000433395.1:n.*77_*79del
ENST00000529588.5:c.187-1266_187-1264del (ATM)
ENST00000532765.1:n.79+824_79+826del (ATM)
ENST00000533690.5:n.1166+910_1166+912del (ATM)
NM_000051.3:c.5762+910_5762+912del , LRG_135t1:c.5762+910_5762+912del (ATM)	NP_000042.3:n.5762+910_5762+912del
XM_005271561.3:c.5762+910_5762+912del (ATM)	XP_005271618.2:n.5762+910_5762+912del
XM_005271562.3:c.5762+910_5762+912del (ATM)	XP_005271619.2:n.5762+910_5762+912del
XM_006718843.2:c.5762+910_5762+912del (ATM)	XP_006718906.1:n.5762+910_5762+912del
XM_006718845.1:c.1718+910_1718+912del (ATM)	XP_006718908.1:n.1718+910_1718+912del
XM_011542840.1:c.5762+910_5762+912del (ATM)	XP_011541142.1:n.5762+910_5762+912del
XM_011542841.1:c.5762+910_5762+912del (ATM)	XP_011541143.1:n.5762+910_5762+912del
XM_011542842.1:c.5597+910_5597+912del (ATM)	XP_011541144.1:n.5597+910_5597+912del
XM_011542843.1:c.5762+910_5762+912del (ATM)	XP_011541145.1:n.5762+910_5762+912del
XM_011542844.1:c.4718+910_4718+912del (ATM)	XP_011541146.1:n.4718+910_4718+912del
XM_011542845.1:c.4454+910_4454+912del (ATM)	XP_011541147.1:n.4454+910_4454+912del
XM_011542847.1:c.833+910_833+912del (ATM)	XP_011541149.1:n.833+910_833+912del
NM_001330368.1:c.*77_*79del (C11orf65)	NP_001317297.1:n.*77_*79del
NM_001351110.1:c.*216_*218del (C11orf65)	NP_001338039.1:n.*216_*218del
NM_001351834.1:c.5762+910_5762+912del (ATM)	NP_001338763.1:n.5762+910_5762+912del
XM_005271562.5:c.5762+910_5762+912del (ATM)	XP_005271619.2:n.5762+910_5762+912del
XM_006718843.4:c.5762+910_5762+912del (ATM)	XP_006718906.1:n.5762+910_5762+912del
XM_006718845.2:c.1718+910_1718+912del (ATM)	XP_006718908.1:n.1718+910_1718+912del
XM_011542840.3:c.5762+910_5762+912del (ATM)	XP_011541142.1:n.5762+910_5762+912del
XM_011542842.3:c.5597+910_5597+912del (ATM)	XP_011541144.1:n.5597+910_5597+912del
XM_011542843.2:c.5762+910_5762+912del (ATM)	XP_011541145.1:n.5762+910_5762+912del
XM_011542844.3:c.4718+910_4718+912del (ATM)	XP_011541146.1:n.4718+910_4718+912del
XM_011542845.2:c.4454+910_4454+912del (ATM)	XP_011541147.1:n.4454+910_4454+912del
XM_017017789.2:c.5762+910_5762+912del (ATM)	XP_016873278.1:n.5762+910_5762+912del
XM_017017790.2:c.5762+910_5762+912del (ATM)	XP_016873279.1:n.5762+910_5762+912del
XM_017017791.1:c.5762+910_5762+912del (ATM)	XP_016873280.1:n.5762+910_5762+912del
XR_002957150.1:n.6362+910_6362+912del (ATM)
NM_001330368.2:c.*77_*79del (C11orf65)	NP_001317297.1:n.*77_*79del
NM_001351110.2:c.*216_*218del (C11orf65)	NP_001338039.1:n.*216_*218del
NM_001351834.2:c.5762+910_5762+912del (ATM)	NP_001338763.1:n.5762+910_5762+912del
NM_000051.4:c.5762+910_5762+912del (ATM) MANE Select	NP_000042.3:n.5762+910_5762+912del