Canonical Allele Identifier: CA2697558923

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2743428
• ClinVar RCV Id: RCV003501870

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316042_108316046dup , CM000673.2:g.108316042_108316046dup	GRCh38
NC_000011.9:g.108186769_108186773dup , CM000673.1:g.108186769_108186773dup	GRCh37
NC_000011.8:g.107691979_107691983dup	NCBI36
NG_009830.1:g.98211_98215dup , LRG_135:g.98211_98215dup
NG_054724.1:g.158787_158791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6127_6131dup (ATM)	ENSP00000388058.2:p.Leu2046LysfsTer3
ENST00000713593.1:c.*5598_*5602dup (ATM)	ENSP00000518889.1:n.*5598_*5602dup
ENST00000278616.9:c.6127_6131dup (ATM)	ENSP00000278616.4:p.Leu2046LysfsTer3
ENST00000525056.2:n.546_550dup (ATM)
ENST00000682286.1:n.884_888dup (ATM)
ENST00000682302.1:n.545_549dup (ATM)
ENST00000683174.1:n.7611_7615dup (ATM)
ENST00000683524.1:n.1351_1355dup (ATM)
ENST00000684152.1:n.1841_1845dup (ATM)
ENST00000527805.6:c.*1191_*1195dup (ATM)	ENSP00000435747.2:n.*1191_*1195dup
ENST00000675595.1:c.*1191_*1195dup (ATM)	ENSP00000502563.1:n.*1191_*1195dup
ENST00000675843.1:c.6127_6131dup (ATM) MANE Select	ENSP00000501606.1:p.Leu2046LysfsTer3
ENST00000278616.8:c.6127_6131dup (ATM)	ENSP00000278616.4:p.Leu2046LysfsTer3
ENST00000452508.6:c.6127_6131dup (ATM)	ENSP00000388058.2:p.Leu2046LysfsTer3
ENST00000524792.5:n.2342_2346dup (ATM)
ENST00000525729.5:c.641-6975_641-6971dup (C11orf65)	ENSP00000433395.1:n.641-6975_641-6971dup
ENST00000532765.1:n.444_448dup (ATM)
ENST00000533690.5:n.1531_1535dup (ATM)
NM_000051.3:c.6127_6131dup , LRG_135t1:c.6127_6131dup (ATM)	NP_000042.3:p.Leu2046LysfsTer3
XM_005271561.3:c.6127_6131dup (ATM)	XP_005271618.2:p.Leu2046LysfsTer3
XM_005271562.3:c.6127_6131dup (ATM)	XP_005271619.2:p.Leu2046LysfsTer3
XM_006718843.2:c.6127_6131dup (ATM)	XP_006718906.1:p.Leu2046LysfsTer3
XM_006718845.1:c.2083_2087dup (ATM)	XP_006718908.1:p.Leu698LysfsTer3
XM_011542840.1:c.6127_6131dup (ATM)	XP_011541142.1:p.Leu2046LysfsTer3
XM_011542841.1:c.6127_6131dup (ATM)	XP_011541143.1:p.Leu2046LysfsTer3
XM_011542842.1:c.5962_5966dup (ATM)	XP_011541144.1:p.Leu1991LysfsTer3
XM_011542843.1:c.6127_6131dup (ATM)	XP_011541145.1:p.Leu2046LysfsTer3
XM_011542844.1:c.5083_5087dup (ATM)	XP_011541146.1:p.Leu1698LysfsTer3
XM_011542845.1:c.4819_4823dup (ATM)	XP_011541147.1:p.Leu1610LysfsTer3
XM_011542847.1:c.1198_1202dup (ATM)	XP_011541149.1:p.Leu403LysfsTer3
NM_001330368.1:c.641-6975_641-6971dup (C11orf65)	NP_001317297.1:n.641-6975_641-6971dup
NM_001351110.1:c.*39-6975_*39-6971dup (C11orf65)	NP_001338039.1:n.*39-6975_*39-6971dup
NM_001351834.1:c.6127_6131dup (ATM)	NP_001338763.1:p.Leu2046LysfsTer3
XM_005271562.5:c.6127_6131dup (ATM)	XP_005271619.2:p.Leu2046LysfsTer3
XM_006718843.4:c.6127_6131dup (ATM)	XP_006718906.1:p.Leu2046LysfsTer3
XM_006718845.2:c.2083_2087dup (ATM)	XP_006718908.1:p.Leu698LysfsTer3
XM_011542840.3:c.6127_6131dup (ATM)	XP_011541142.1:p.Leu2046LysfsTer3
XM_011542842.3:c.5962_5966dup (ATM)	XP_011541144.1:p.Leu1991LysfsTer3
XM_011542843.2:c.6127_6131dup (ATM)	XP_011541145.1:p.Leu2046LysfsTer3
XM_011542844.3:c.5083_5087dup (ATM)	XP_011541146.1:p.Leu1698LysfsTer3
XM_011542845.2:c.4819_4823dup (ATM)	XP_011541147.1:p.Leu1610LysfsTer3
XM_017017789.2:c.6127_6131dup (ATM)	XP_016873278.1:p.Leu2046LysfsTer3
XM_017017790.2:c.6127_6131dup (ATM)	XP_016873279.1:p.Leu2046LysfsTer3
XM_017017791.1:c.6127_6131dup (ATM)	XP_016873280.1:p.Leu2046LysfsTer3
NM_001330368.2:c.641-6975_641-6971dup (C11orf65)	NP_001317297.1:n.641-6975_641-6971dup
NM_001351110.2:c.*39-6975_*39-6971dup (C11orf65)	NP_001338039.1:n.*39-6975_*39-6971dup
NM_001351834.2:c.6127_6131dup (ATM)	NP_001338763.1:p.Leu2046LysfsTer3
NM_000051.4:c.6127_6131dup (ATM) MANE Select	NP_000042.3:p.Leu2046LysfsTer3