Canonical Allele Identifier: CA2615857164

Gene: ATM

Linked Data

• gnomAD v4: 11-108302894-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302896del , CM000673.2:g.108302896del	GRCh38
NC_000011.9:g.108173623del , CM000673.1:g.108173623del	GRCh37
NC_000011.8:g.107678833del	NCBI36
NG_009830.1:g.85065del , LRG_135:g.85065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5363del	ENSP00000388058.2:p.Gly1788AlafsTer5
ENST00000713593.1:c.*4834del	ENSP00000518889.1:n.*4834del
ENST00000278616.9:c.5363del	ENSP00000278616.4:p.Gly1788AlafsTer5
ENST00000683174.1:n.6847del
ENST00000683524.1:n.587del
ENST00000684152.1:n.1077del
ENST00000527805.6:c.*427del	ENSP00000435747.2:n.*427del
ENST00000675595.1:c.*427del	ENSP00000502563.1:n.*427del
ENST00000675843.1:c.5363del MANE Select	ENSP00000501606.1:p.Gly1788AlafsTer5
ENST00000278616.8:c.5363del	ENSP00000278616.4:p.Gly1788AlafsTer5
ENST00000452508.6:c.5363del	ENSP00000388058.2:p.Gly1788AlafsTer5
ENST00000524792.5:n.1578del
ENST00000533690.5:n.767del
ENST00000534625.1:n.592del
NM_000051.3:c.5363del , LRG_135t1:c.5363del	NP_000042.3:p.Gly1788AlafsTer5
XM_005271561.3:c.5363del	XP_005271618.2:p.Gly1788AlafsTer5
XM_005271562.3:c.5363del	XP_005271619.2:p.Gly1788AlafsTer5
XM_006718843.2:c.5363del	XP_006718906.1:p.Gly1788AlafsTer5
XM_006718845.1:c.1319del	XP_006718908.1:p.Gly440AlafsTer5
XM_011542840.1:c.5363del	XP_011541142.1:p.Gly1788AlafsTer5
XM_011542841.1:c.5363del	XP_011541143.1:p.Gly1788AlafsTer5
XM_011542842.1:c.5198del	XP_011541144.1:p.Gly1733AlafsTer5
XM_011542843.1:c.5363del	XP_011541145.1:p.Gly1788AlafsTer5
XM_011542844.1:c.4319del	XP_011541146.1:p.Gly1440AlafsTer5
XM_011542845.1:c.4055del	XP_011541147.1:p.Gly1352AlafsTer5
XM_011542846.1:c.*21del	XP_011541148.1:n.*21del
XM_011542847.1:c.434del	XP_011541149.1:p.Gly145AlafsTer5
NM_001351834.1:c.5363del	NP_001338763.1:p.Gly1788AlafsTer5
XM_005271562.5:c.5363del	XP_005271619.2:p.Gly1788AlafsTer5
XM_006718843.4:c.5363del	XP_006718906.1:p.Gly1788AlafsTer5
XM_006718845.2:c.1319del	XP_006718908.1:p.Gly440AlafsTer5
XM_011542840.3:c.5363del	XP_011541142.1:p.Gly1788AlafsTer5
XM_011542842.3:c.5198del	XP_011541144.1:p.Gly1733AlafsTer5
XM_011542843.2:c.5363del	XP_011541145.1:p.Gly1788AlafsTer5
XM_011542844.3:c.4319del	XP_011541146.1:p.Gly1440AlafsTer5
XM_011542845.2:c.4055del	XP_011541147.1:p.Gly1352AlafsTer5
XM_017017789.2:c.5363del	XP_016873278.1:p.Gly1788AlafsTer5
XM_017017790.2:c.5363del	XP_016873279.1:p.Gly1788AlafsTer5
XM_017017791.1:c.5363del	XP_016873280.1:p.Gly1788AlafsTer5
XM_017017792.2:c.*44del	XP_016873281.1:n.*44del
XR_002957150.1:n.5963del
NM_001351834.2:c.5363del	NP_001338763.1:p.Gly1788AlafsTer5
NM_000051.4:c.5363del MANE Select	NP_000042.3:p.Gly1788AlafsTer5