Canonical Allele Identifier: CA2615859039

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108315859-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315860_108315861del , CM000673.2:g.108315860_108315861del	GRCh38
NC_000011.9:g.108186587_108186588del , CM000673.1:g.108186587_108186588del	GRCh37
NC_000011.8:g.107691797_107691798del	NCBI36
NG_009830.1:g.98029_98030del , LRG_135:g.98029_98030del
NG_054724.1:g.158972_158973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6044_6045del (ATM)	ENSP00000388058.2:p.Pro2015ArgfsTer2
ENST00000713593.1:c.*5515_*5516del (ATM)	ENSP00000518889.1:n.*5515_*5516del
ENST00000278616.9:c.6044_6045del (ATM)	ENSP00000278616.4:p.Pro2015ArgfsTer2
ENST00000525056.2:n.463_464del (ATM)
ENST00000682286.1:n.801_802del (ATM)
ENST00000682302.1:n.462_463del (ATM)
ENST00000683174.1:n.7528_7529del (ATM)
ENST00000683524.1:n.1268_1269del (ATM)
ENST00000684152.1:n.1758_1759del (ATM)
ENST00000527805.6:c.*1108_*1109del (ATM)	ENSP00000435747.2:n.*1108_*1109del
ENST00000675595.1:c.*1108_*1109del (ATM)	ENSP00000502563.1:n.*1108_*1109del
ENST00000675843.1:c.6044_6045del (ATM) MANE Select	ENSP00000501606.1:p.Pro2015ArgfsTer2
ENST00000278616.8:c.6044_6045del (ATM)	ENSP00000278616.4:p.Pro2015ArgfsTer2
ENST00000452508.6:c.6044_6045del (ATM)	ENSP00000388058.2:p.Pro2015ArgfsTer2
ENST00000524792.5:n.2259_2260del (ATM)
ENST00000525729.5:c.641-6790_641-6789del (C11orf65)	ENSP00000433395.1:n.641-6790_641-6789del
ENST00000529588.5:c.468_469del (ATM)
ENST00000532765.1:n.361_362del (ATM)
ENST00000533690.5:n.1448_1449del (ATM)
NM_000051.3:c.6044_6045del , LRG_135t1:c.6044_6045del (ATM)	NP_000042.3:p.Pro2015ArgfsTer2
XM_005271561.3:c.6044_6045del (ATM)	XP_005271618.2:p.Pro2015ArgfsTer2
XM_005271562.3:c.6044_6045del (ATM)	XP_005271619.2:p.Pro2015ArgfsTer2
XM_006718843.2:c.6044_6045del (ATM)	XP_006718906.1:p.Pro2015ArgfsTer2
XM_006718845.1:c.2000_2001del (ATM)	XP_006718908.1:p.Pro667ArgfsTer2
XM_011542840.1:c.6044_6045del (ATM)	XP_011541142.1:p.Pro2015ArgfsTer2
XM_011542841.1:c.6044_6045del (ATM)	XP_011541143.1:p.Pro2015ArgfsTer2
XM_011542842.1:c.5879_5880del (ATM)	XP_011541144.1:p.Pro1960ArgfsTer2
XM_011542843.1:c.6044_6045del (ATM)	XP_011541145.1:p.Pro2015ArgfsTer2
XM_011542844.1:c.5000_5001del (ATM)	XP_011541146.1:p.Pro1667ArgfsTer2
XM_011542845.1:c.4736_4737del (ATM)	XP_011541147.1:p.Pro1579ArgfsTer2
XM_011542847.1:c.1115_1116del (ATM)	XP_011541149.1:p.Pro372ArgfsTer2
NM_001330368.1:c.641-6790_641-6789del (C11orf65)	NP_001317297.1:n.641-6790_641-6789del
NM_001351110.1:c.*39-6790_*39-6789del (C11orf65)	NP_001338039.1:n.*39-6790_*39-6789del
NM_001351834.1:c.6044_6045del (ATM)	NP_001338763.1:p.Pro2015ArgfsTer2
XM_005271562.5:c.6044_6045del (ATM)	XP_005271619.2:p.Pro2015ArgfsTer2
XM_006718843.4:c.6044_6045del (ATM)	XP_006718906.1:p.Pro2015ArgfsTer2
XM_006718845.2:c.2000_2001del (ATM)	XP_006718908.1:p.Pro667ArgfsTer2
XM_011542840.3:c.6044_6045del (ATM)	XP_011541142.1:p.Pro2015ArgfsTer2
XM_011542842.3:c.5879_5880del (ATM)	XP_011541144.1:p.Pro1960ArgfsTer2
XM_011542843.2:c.6044_6045del (ATM)	XP_011541145.1:p.Pro2015ArgfsTer2
XM_011542844.3:c.5000_5001del (ATM)	XP_011541146.1:p.Pro1667ArgfsTer2
XM_011542845.2:c.4736_4737del (ATM)	XP_011541147.1:p.Pro1579ArgfsTer2
XM_017017789.2:c.6044_6045del (ATM)	XP_016873278.1:p.Pro2015ArgfsTer2
XM_017017790.2:c.6044_6045del (ATM)	XP_016873279.1:p.Pro2015ArgfsTer2
XM_017017791.1:c.6044_6045del (ATM)	XP_016873280.1:p.Pro2015ArgfsTer2
NM_001330368.2:c.641-6790_641-6789del (C11orf65)	NP_001317297.1:n.641-6790_641-6789del
NM_001351110.2:c.*39-6790_*39-6789del (C11orf65)	NP_001338039.1:n.*39-6790_*39-6789del
NM_001351834.2:c.6044_6045del (ATM)	NP_001338763.1:p.Pro2015ArgfsTer2
NM_000051.4:c.6044_6045del (ATM) MANE Select	NP_000042.3:p.Pro2015ArgfsTer2