Canonical Allele Identifier: CA915947651

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 641310
• ClinVar RCV Id: RCV000794523
• dbSNP Id: rs1591778872
• gnomAD v4: 11-108316051-C-CTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316054_108316056dup , CM000673.2:g.108316054_108316056dup	GRCh38
NC_000011.9:g.108186781_108186783dup , CM000673.1:g.108186781_108186783dup	GRCh37
NC_000011.8:g.107691991_107691993dup	NCBI36
NG_009830.1:g.98223_98225dup , LRG_135:g.98223_98225dup
NG_054724.1:g.158779_158781dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6139_6141dup (ATM)	ENSP00000388058.2:p.Val2047_Thr2048insVal
ENST00000713593.1:c.*5610_*5612dup (ATM)	ENSP00000518889.1:n.*5610_*5612dup
ENST00000278616.9:c.6139_6141dup (ATM)	ENSP00000278616.4:p.Val2047_Thr2048insVal
ENST00000525056.2:n.558_560dup (ATM)
ENST00000682286.1:n.896_898dup (ATM)
ENST00000682302.1:n.557_559dup (ATM)
ENST00000683174.1:n.7623_7625dup (ATM)
ENST00000683524.1:n.1363_1365dup (ATM)
ENST00000684152.1:n.1853_1855dup (ATM)
ENST00000527805.6:c.*1203_*1205dup (ATM)	ENSP00000435747.2:n.*1203_*1205dup
ENST00000675595.1:c.*1203_*1205dup (ATM)	ENSP00000502563.1:n.*1203_*1205dup
ENST00000675843.1:c.6139_6141dup (ATM) MANE Select	ENSP00000501606.1:p.Val2047_Thr2048insVal
ENST00000278616.8:c.6139_6141dup (ATM)	ENSP00000278616.4:p.Val2047_Thr2048insVal
ENST00000452508.6:c.6139_6141dup (ATM)	ENSP00000388058.2:p.Val2047_Thr2048insVal
ENST00000524792.5:n.2354_2356dup (ATM)
ENST00000525729.5:c.641-6983_641-6981dup (C11orf65)	ENSP00000433395.1:n.641-6983_641-6981dup
ENST00000532765.1:n.456_458dup (ATM)
ENST00000533690.5:n.1543_1545dup (ATM)
NM_000051.3:c.6139_6141dup , LRG_135t1:c.6139_6141dup (ATM)	NP_000042.3:p.Val2047_Thr2048insVal
XM_005271561.3:c.6139_6141dup (ATM)	XP_005271618.2:p.Val2047_Thr2048insVal
XM_005271562.3:c.6139_6141dup (ATM)	XP_005271619.2:p.Val2047_Thr2048insVal
XM_006718843.2:c.6139_6141dup (ATM)	XP_006718906.1:p.Val2047_Thr2048insVal
XM_006718845.1:c.2095_2097dup (ATM)	XP_006718908.1:p.Val699_Thr700insVal
XM_011542840.1:c.6139_6141dup (ATM)	XP_011541142.1:p.Val2047_Thr2048insVal
XM_011542841.1:c.6139_6141dup (ATM)	XP_011541143.1:p.Val2047_Thr2048insVal
XM_011542842.1:c.5974_5976dup (ATM)	XP_011541144.1:p.Val1992_Thr1993insVal
XM_011542843.1:c.6139_6141dup (ATM)	XP_011541145.1:p.Val2047_Thr2048insVal
XM_011542844.1:c.5095_5097dup (ATM)	XP_011541146.1:p.Val1699_Thr1700insVal
XM_011542845.1:c.4831_4833dup (ATM)	XP_011541147.1:p.Val1611_Thr1612insVal
XM_011542847.1:c.1210_1212dup (ATM)	XP_011541149.1:p.Val404_Thr405insVal
NM_001330368.1:c.641-6983_641-6981dup (C11orf65)	NP_001317297.1:n.641-6983_641-6981dup
NM_001351110.1:c.*39-6983_*39-6981dup (C11orf65)	NP_001338039.1:n.*39-6983_*39-6981dup
NM_001351834.1:c.6139_6141dup (ATM)	NP_001338763.1:p.Val2047_Thr2048insVal
XM_005271562.5:c.6139_6141dup (ATM)	XP_005271619.2:p.Val2047_Thr2048insVal
XM_006718843.4:c.6139_6141dup (ATM)	XP_006718906.1:p.Val2047_Thr2048insVal
XM_006718845.2:c.2095_2097dup (ATM)	XP_006718908.1:p.Val699_Thr700insVal
XM_011542840.3:c.6139_6141dup (ATM)	XP_011541142.1:p.Val2047_Thr2048insVal
XM_011542842.3:c.5974_5976dup (ATM)	XP_011541144.1:p.Val1992_Thr1993insVal
XM_011542843.2:c.6139_6141dup (ATM)	XP_011541145.1:p.Val2047_Thr2048insVal
XM_011542844.3:c.5095_5097dup (ATM)	XP_011541146.1:p.Val1699_Thr1700insVal
XM_011542845.2:c.4831_4833dup (ATM)	XP_011541147.1:p.Val1611_Thr1612insVal
XM_017017789.2:c.6139_6141dup (ATM)	XP_016873278.1:p.Val2047_Thr2048insVal
XM_017017790.2:c.6139_6141dup (ATM)	XP_016873279.1:p.Val2047_Thr2048insVal
XM_017017791.1:c.6139_6141dup (ATM)	XP_016873280.1:p.Val2047_Thr2048insVal
NM_001330368.2:c.641-6983_641-6981dup (C11orf65)	NP_001317297.1:n.641-6983_641-6981dup
NM_001351110.2:c.*39-6983_*39-6981dup (C11orf65)	NP_001338039.1:n.*39-6983_*39-6981dup
NM_001351834.2:c.6139_6141dup (ATM)	NP_001338763.1:p.Val2047_Thr2048insVal
NM_000051.4:c.6139_6141dup (ATM) MANE Select	NP_000042.3:p.Val2047_Thr2048insVal