Canonical Allele Identifier: CA2697556945

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2774707
• ClinVar RCV Id: RCV003585897

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327704_108327705del , CM000673.2:g.108327704_108327705del	GRCh38
NC_000011.9:g.108198431_108198432del , CM000673.1:g.108198431_108198432del	GRCh37
NC_000011.8:g.107703641_107703642del	NCBI36
NG_009830.1:g.109873_109874del , LRG_135:g.109873_109874del
NG_054724.1:g.147128_147129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7035_7036del (ATM)	ENSP00000388058.2:p.Leu2345PhefsTer27
ENST00000713593.1:c.*6506_*6507del (ATM)	ENSP00000518889.1:n.*6506_*6507del
ENST00000278616.9:c.7035_7036del (ATM)	ENSP00000278616.4:p.Leu2345PhefsTer27
ENST00000525056.2:n.1454_1455del (ATM)
ENST00000682286.1:n.1792_1793del (ATM)
ENST00000682302.1:n.1453_1454del (ATM)
ENST00000683174.1:n.8519_8520del (ATM)
ENST00000683524.1:n.2259_2260del (ATM)
ENST00000684152.1:n.2749_2750del (ATM)
ENST00000684447.1:n.1498_1499del (ATM)
ENST00000527805.6:c.*2099_*2100del (ATM)	ENSP00000435747.2:n.*2099_*2100del
ENST00000675595.1:c.*2170_*2171del (ATM)	ENSP00000502563.1:n.*2170_*2171del
ENST00000675843.1:c.7035_7036del (ATM) MANE Select	ENSP00000501606.1:p.Leu2345PhefsTer27
ENST00000278616.8:c.7035_7036del (ATM)	ENSP00000278616.4:p.Leu2345PhefsTer27
ENST00000452508.6:c.7035_7036del (ATM)	ENSP00000388058.2:p.Leu2345PhefsTer27
ENST00000524792.5:n.3250_3251del (ATM)
ENST00000525537.2:n.311_312del (ATM)
ENST00000525729.5:c.641-18634_641-18633del (C11orf65)	ENSP00000433395.1:n.641-18634_641-18633del
ENST00000527389.2:n.60_61del (ATM)
ENST00000533690.5:n.2439_2440del (ATM)
NM_000051.3:c.7035_7036del , LRG_135t1:c.7035_7036del (ATM)	NP_000042.3:p.Leu2345PhefsTer27
XM_005271561.3:c.7035_7036del (ATM)	XP_005271618.2:p.Leu2345PhefsTer27
XM_005271562.3:c.7035_7036del (ATM)	XP_005271619.2:p.Leu2345PhefsTer27
XM_006718843.2:c.7035_7036del (ATM)	XP_006718906.1:p.Leu2345PhefsTer27
XM_006718845.1:c.2991_2992del (ATM)	XP_006718908.1:p.Leu997PhefsTer27
XM_011542840.1:c.7035_7036del (ATM)	XP_011541142.1:p.Leu2345PhefsTer27
XM_011542841.1:c.7035_7036del (ATM)	XP_011541143.1:p.Leu2345PhefsTer27
XM_011542842.1:c.6870_6871del (ATM)	XP_011541144.1:p.Leu2290PhefsTer27
XM_011542843.1:c.7035_7036del (ATM)	XP_011541145.1:p.Leu2345PhefsTer27
XM_011542844.1:c.5991_5992del (ATM)	XP_011541146.1:p.Leu1997PhefsTer27
XM_011542845.1:c.5727_5728del (ATM)	XP_011541147.1:p.Leu1909PhefsTer27
XM_011542847.1:c.2106_2107del (ATM)	XP_011541149.1:p.Leu702PhefsTer27
NM_001330368.1:c.641-18634_641-18633del (C11orf65)	NP_001317297.1:n.641-18634_641-18633del
NM_001351110.1:c.*38+7515_*38+7516del (C11orf65)	NP_001338039.1:n.*38+7515_*38+7516del
NM_001351834.1:c.7035_7036del (ATM)	NP_001338763.1:p.Leu2345PhefsTer27
XM_005271562.5:c.7035_7036del (ATM)	XP_005271619.2:p.Leu2345PhefsTer27
XM_006718843.4:c.7035_7036del (ATM)	XP_006718906.1:p.Leu2345PhefsTer27
XM_006718845.2:c.2991_2992del (ATM)	XP_006718908.1:p.Leu997PhefsTer27
XM_011542840.3:c.7035_7036del (ATM)	XP_011541142.1:p.Leu2345PhefsTer27
XM_011542842.3:c.6870_6871del (ATM)	XP_011541144.1:p.Leu2290PhefsTer27
XM_011542843.2:c.7035_7036del (ATM)	XP_011541145.1:p.Leu2345PhefsTer27
XM_011542844.3:c.5991_5992del (ATM)	XP_011541146.1:p.Leu1997PhefsTer27
XM_011542845.2:c.5727_5728del (ATM)	XP_011541147.1:p.Leu1909PhefsTer27
XM_017017789.2:c.7035_7036del (ATM)	XP_016873278.1:p.Leu2345PhefsTer27
XM_017017790.2:c.7035_7036del (ATM)	XP_016873279.1:p.Leu2345PhefsTer27
NM_001330368.2:c.641-18634_641-18633del (C11orf65)	NP_001317297.1:n.641-18634_641-18633del
NM_001351110.2:c.*38+7515_*38+7516del (C11orf65)	NP_001338039.1:n.*38+7515_*38+7516del
NM_001351834.2:c.7035_7036del (ATM)	NP_001338763.1:p.Leu2345PhefsTer27
NM_000051.4:c.7035_7036del (ATM) MANE Select	NP_000042.3:p.Leu2345PhefsTer27