Canonical Allele Identifier: CA2580616425

Gene: ATM

Linked Data

• ClinVar Variation Id: 1794151
• ClinVar RCV Id: RCV002428615

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268403_108268408del , CM000673.2:g.108268403_108268408del	GRCh38
NC_000011.9:g.108139130_108139135del , CM000673.1:g.108139130_108139135del	GRCh37
NC_000011.8:g.107644340_107644345del	NCBI36
NG_009830.1:g.50572_50577del , LRG_135:g.50572_50577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2639-7_2639-2del	ENSP00000388058.2:n.2639-7_2639-2del
ENST00000713593.1:c.*2110-7_*2110-2del	ENSP00000518889.1:n.*2110-7_*2110-2del
ENST00000278616.9:c.2639-7_2639-2del	ENSP00000278616.4:n.2639-7_2639-2del
ENST00000682516.1:n.2772+1061_2772+1066del
ENST00000683174.1:n.2789-7_2789-2del
ENST00000684037.1:c.*1573+1061_*1573+1066del	ENSP00000508245.1:n.*1573+1061_*1573+1066del
ENST00000527805.6:c.2639-7_2639-2del	ENSP00000435747.2:n.2639-7_2639-2del
ENST00000675595.1:c.2474-7_2474-2del	ENSP00000502563.1:n.2474-7_2474-2del
ENST00000675843.1:c.2639-7_2639-2del MANE Select	ENSP00000501606.1:n.2639-7_2639-2del
ENST00000278616.8:c.2639-7_2639-2del	ENSP00000278616.4:n.2639-7_2639-2del
ENST00000452508.6:c.2639-7_2639-2del	ENSP00000388058.2:n.2639-7_2639-2del
ENST00000527805.5:c.2639-7_2639-2del	ENSP00000435747.1:n.2639-7_2639-2del
NM_000051.3:c.2639-7_2639-2del , LRG_135t1:c.2639-7_2639-2del	NP_000042.3:n.2639-7_2639-2del
XM_005271561.3:c.2639-7_2639-2del	XP_005271618.2:n.2639-7_2639-2del
XM_005271562.3:c.2639-7_2639-2del	XP_005271619.2:n.2639-7_2639-2del
XM_006718843.2:c.2639-7_2639-2del	XP_006718906.1:n.2639-7_2639-2del
XM_011542840.1:c.2639-7_2639-2del	XP_011541142.1:n.2639-7_2639-2del
XM_011542841.1:c.2639-7_2639-2del	XP_011541143.1:n.2639-7_2639-2del
XM_011542842.1:c.2474-7_2474-2del	XP_011541144.1:n.2474-7_2474-2del
XM_011542843.1:c.2639-7_2639-2del	XP_011541145.1:n.2639-7_2639-2del
XM_011542844.1:c.1595-7_1595-2del	XP_011541146.1:n.1595-7_1595-2del
XM_011542845.1:c.1331-7_1331-2del	XP_011541147.1:n.1331-7_1331-2del
XM_011542846.1:c.2639-7_2639-2del	XP_011541148.1:n.2639-7_2639-2del
NM_001351834.1:c.2639-7_2639-2del	NP_001338763.1:n.2639-7_2639-2del
XM_005271562.5:c.2639-7_2639-2del	XP_005271619.2:n.2639-7_2639-2del
XM_006718843.4:c.2639-7_2639-2del	XP_006718906.1:n.2639-7_2639-2del
XM_011542840.3:c.2639-7_2639-2del	XP_011541142.1:n.2639-7_2639-2del
XM_011542842.3:c.2474-7_2474-2del	XP_011541144.1:n.2474-7_2474-2del
XM_011542843.2:c.2639-7_2639-2del	XP_011541145.1:n.2639-7_2639-2del
XM_011542844.3:c.1595-7_1595-2del	XP_011541146.1:n.1595-7_1595-2del
XM_011542845.2:c.1331-7_1331-2del	XP_011541147.1:n.1331-7_1331-2del
XM_017017789.2:c.2639-7_2639-2del	XP_016873278.1:n.2639-7_2639-2del
XM_017017790.2:c.2639-7_2639-2del	XP_016873279.1:n.2639-7_2639-2del
XM_017017791.1:c.2639-7_2639-2del	XP_016873280.1:n.2639-7_2639-2del
XM_017017792.2:c.2639-7_2639-2del	XP_016873281.1:n.2639-7_2639-2del
XR_002957150.1:n.3372-7_3372-2del
NM_001351834.2:c.2639-7_2639-2del	NP_001338763.1:n.2639-7_2639-2del
NM_000051.4:c.2639-7_2639-2del MANE Select	NP_000042.3:n.2639-7_2639-2del