Canonical Allele Identifier: CA2615861833

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108331933-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331935del , CM000673.2:g.108331935del	GRCh38
NC_000011.9:g.108202662del , CM000673.1:g.108202662del	GRCh37
NC_000011.8:g.107707872del	NCBI36
NG_009830.1:g.114104del , LRG_135:g.114104del
NG_054724.1:g.142899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7686del (ATM)	ENSP00000388058.2:p.Leu2563Ter
ENST00000713593.1:c.*7157del (ATM)	ENSP00000518889.1:n.*7157del
ENST00000278616.9:c.7686del (ATM)	ENSP00000278616.4:p.Leu2563Ter
ENST00000525056.2:n.2105del (ATM)
ENST00000525537.3:n.643del (ATM)
ENST00000638786.2:n.523del (ATM)
ENST00000682286.1:n.2443del (ATM)
ENST00000682302.1:n.2104del (ATM)
ENST00000683174.1:n.9170del (ATM)
ENST00000683524.1:n.2910del (ATM)
ENST00000684152.1:n.3343+378del (ATM)
ENST00000684447.1:n.2470del (ATM)
ENST00000527805.6:c.*2750del (ATM)	ENSP00000435747.2:n.*2750del
ENST00000675595.1:c.*2821del (ATM)	ENSP00000502563.1:n.*2821del
ENST00000675843.1:c.7686del (ATM) MANE Select	ENSP00000501606.1:p.Leu2563Ter
ENST00000278616.8:c.7686del (ATM)	ENSP00000278616.4:p.Leu2563Ter
ENST00000452508.6:c.7686del (ATM)	ENSP00000388058.2:p.Leu2563Ter
ENST00000524755.5:c.300-367del (C11orf65)
ENST00000524792.5:n.3901del (ATM)
ENST00000525729.5:c.641-22863del (C11orf65)	ENSP00000433395.1:n.641-22863del
ENST00000527531.5:c.*1270-367del (C11orf65)	ENSP00000431706.1:n.*1270-367del
ENST00000533690.5:n.3090del (ATM)
ENST00000615746.4:c.*1270-367del (C11orf65)	ENSP00000483537.1:n.*1270-367del
NM_000051.3:c.7686del , LRG_135t1:c.7686del (ATM)	NP_000042.3:p.Leu2563Ter
XM_005271414.3:c.*39-367del (C11orf65)	XP_005271471.1:n.*39-367del
XM_005271415.3:c.805-367del (C11orf65)	XP_005271472.1:n.805-367del
XM_005271561.3:c.7686del (ATM)	XP_005271618.2:p.Leu2563Ter
XM_005271562.3:c.7686del (ATM)	XP_005271619.2:p.Leu2563Ter
XM_006718843.2:c.7686del (ATM)	XP_006718906.1:p.Leu2563Ter
XM_006718845.1:c.3642del (ATM)	XP_006718908.1:p.Leu1215Ter
XM_011542840.1:c.7686del (ATM)	XP_011541142.1:p.Leu2563Ter
XM_011542841.1:c.7686del (ATM)	XP_011541143.1:p.Leu2563Ter
XM_011542842.1:c.7521del (ATM)	XP_011541144.1:p.Leu2508Ter
XM_011542843.1:c.7686del (ATM)	XP_011541145.1:p.Leu2563Ter
XM_011542844.1:c.6642del (ATM)	XP_011541146.1:p.Leu2215Ter
XM_011542845.1:c.6378del (ATM)	XP_011541147.1:p.Leu2127Ter
XM_011542847.1:c.2757del (ATM)	XP_011541149.1:p.Leu920Ter
NM_001330368.1:c.641-22863del (C11orf65)	NP_001317297.1:n.641-22863del
NM_001351110.1:c.*38+3286del (C11orf65)	NP_001338039.1:n.*38+3286del
NM_001351834.1:c.7686del (ATM)	NP_001338763.1:p.Leu2563Ter
NR_147053.2:n.2375-367del (C11orf65)
XM_005271414.4:c.*39-367del (C11orf65)	XP_005271471.1:n.*39-367del
XM_005271415.4:c.805-367del (C11orf65)	XP_005271472.1:n.805-367del
XM_005271562.5:c.7686del (ATM)	XP_005271619.2:p.Leu2563Ter
XM_006718843.4:c.7686del (ATM)	XP_006718906.1:p.Leu2563Ter
XM_006718845.2:c.3642del (ATM)	XP_006718908.1:p.Leu1215Ter
XM_011542840.3:c.7686del (ATM)	XP_011541142.1:p.Leu2563Ter
XM_011542842.3:c.7521del (ATM)	XP_011541144.1:p.Leu2508Ter
XM_011542843.2:c.7686del (ATM)	XP_011541145.1:p.Leu2563Ter
XM_011542844.3:c.6642del (ATM)	XP_011541146.1:p.Leu2215Ter
XM_011542845.2:c.6378del (ATM)	XP_011541147.1:p.Leu2127Ter
XM_017017789.2:c.7686del (ATM)	XP_016873278.1:p.Leu2563Ter
XM_017017790.2:c.7686del (ATM)	XP_016873279.1:p.Leu2563Ter
NM_001330368.2:c.641-22863del (C11orf65)	NP_001317297.1:n.641-22863del
NM_001351110.2:c.*38+3286del (C11orf65)	NP_001338039.1:n.*38+3286del
NM_001351834.2:c.7686del (ATM)	NP_001338763.1:p.Leu2563Ter
NM_000051.4:c.7686del (ATM) MANE Select	NP_000042.3:p.Leu2563Ter
NR_147053.3:n.2373-367del (C11orf65)