Canonical Allele Identifier: CA2615857190

Gene: ATM

Linked Data

• gnomAD v4: 11-108302950-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302952_108302953del , CM000673.2:g.108302952_108302953del	GRCh38
NC_000011.9:g.108173679_108173680del , CM000673.1:g.108173679_108173680del	GRCh37
NC_000011.8:g.107678889_107678890del	NCBI36
NG_009830.1:g.85121_85122del , LRG_135:g.85121_85122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5419_5420del	ENSP00000388058.2:p.Lys1807AspfsTer15
ENST00000713593.1:c.*4890_*4891del	ENSP00000518889.1:n.*4890_*4891del
ENST00000278616.9:c.5419_5420del	ENSP00000278616.4:p.Lys1807AspfsTer15
ENST00000683174.1:n.6903_6904del
ENST00000683524.1:n.643_644del
ENST00000684152.1:n.1133_1134del
ENST00000527805.6:c.*483_*484del	ENSP00000435747.2:n.*483_*484del
ENST00000675595.1:c.*483_*484del	ENSP00000502563.1:n.*483_*484del
ENST00000675843.1:c.5419_5420del MANE Select	ENSP00000501606.1:p.Lys1807AspfsTer15
ENST00000278616.8:c.5419_5420del	ENSP00000278616.4:p.Lys1807AspfsTer15
ENST00000452508.6:c.5419_5420del	ENSP00000388058.2:p.Lys1807AspfsTer15
ENST00000524792.5:n.1634_1635del
ENST00000533690.5:n.823_824del
ENST00000534625.1:n.648_649del
NM_000051.3:c.5419_5420del , LRG_135t1:c.5419_5420del	NP_000042.3:p.Lys1807AspfsTer15
XM_005271561.3:c.5419_5420del	XP_005271618.2:p.Lys1807AspfsTer15
XM_005271562.3:c.5419_5420del	XP_005271619.2:p.Lys1807AspfsTer15
XM_006718843.2:c.5419_5420del	XP_006718906.1:p.Lys1807AspfsTer15
XM_006718845.1:c.1375_1376del	XP_006718908.1:p.Lys459AspfsTer15
XM_011542840.1:c.5419_5420del	XP_011541142.1:p.Lys1807AspfsTer15
XM_011542841.1:c.5419_5420del	XP_011541143.1:p.Lys1807AspfsTer15
XM_011542842.1:c.5254_5255del	XP_011541144.1:p.Lys1752AspfsTer15
XM_011542843.1:c.5419_5420del	XP_011541145.1:p.Lys1807AspfsTer15
XM_011542844.1:c.4375_4376del	XP_011541146.1:p.Lys1459AspfsTer15
XM_011542845.1:c.4111_4112del	XP_011541147.1:p.Lys1371AspfsTer15
XM_011542846.1:c.*77_*78del	XP_011541148.1:n.*77_*78del
XM_011542847.1:c.490_491del	XP_011541149.1:p.Lys164AspfsTer15
NM_001351834.1:c.5419_5420del	NP_001338763.1:p.Lys1807AspfsTer15
XM_005271562.5:c.5419_5420del	XP_005271619.2:p.Lys1807AspfsTer15
XM_006718843.4:c.5419_5420del	XP_006718906.1:p.Lys1807AspfsTer15
XM_006718845.2:c.1375_1376del	XP_006718908.1:p.Lys459AspfsTer15
XM_011542840.3:c.5419_5420del	XP_011541142.1:p.Lys1807AspfsTer15
XM_011542842.3:c.5254_5255del	XP_011541144.1:p.Lys1752AspfsTer15
XM_011542843.2:c.5419_5420del	XP_011541145.1:p.Lys1807AspfsTer15
XM_011542844.3:c.4375_4376del	XP_011541146.1:p.Lys1459AspfsTer15
XM_011542845.2:c.4111_4112del	XP_011541147.1:p.Lys1371AspfsTer15
XM_017017789.2:c.5419_5420del	XP_016873278.1:p.Lys1807AspfsTer15
XM_017017790.2:c.5419_5420del	XP_016873279.1:p.Lys1807AspfsTer15
XM_017017791.1:c.5419_5420del	XP_016873280.1:p.Lys1807AspfsTer15
XR_002957150.1:n.6019_6020del
NM_001351834.2:c.5419_5420del	NP_001338763.1:p.Lys1807AspfsTer15
NM_000051.4:c.5419_5420del MANE Select	NP_000042.3:p.Lys1807AspfsTer15