Canonical Allele Identifier: CA891842112

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148748
• ClinVar RCV Id: RCV004442642

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302974del , CM000673.2:g.108302974del	GRCh38
NC_000011.9:g.108173701del , CM000673.1:g.108173701del	GRCh37
NC_000011.8:g.107678911del	NCBI36
NG_009830.1:g.85143del , LRG_135:g.85143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5441del	ENSP00000388058.2:p.Leu1814TrpfsTer14
ENST00000713593.1:c.*4912del	ENSP00000518889.1:n.*4912del
ENST00000278616.9:c.5441del	ENSP00000278616.4:p.Leu1814TrpfsTer14
ENST00000683174.1:n.6925del
ENST00000683524.1:n.665del
ENST00000684152.1:n.1155del
ENST00000527805.6:c.*505del	ENSP00000435747.2:n.*505del
ENST00000675595.1:c.*505del	ENSP00000502563.1:n.*505del
ENST00000675843.1:c.5441del MANE Select	ENSP00000501606.1:p.Leu1814TrpfsTer14
ENST00000278616.8:c.5441del	ENSP00000278616.4:p.Leu1814TrpfsTer14
ENST00000452508.6:c.5441del	ENSP00000388058.2:p.Leu1814TrpfsTer14
ENST00000524792.5:n.1656del
ENST00000533690.5:n.845del
ENST00000534625.1:n.670del
NM_000051.3:c.5441del , LRG_135t1:c.5441del	NP_000042.3:p.Leu1814TrpfsTer14
XM_005271561.3:c.5441del	XP_005271618.2:p.Leu1814TrpfsTer14
XM_005271562.3:c.5441del	XP_005271619.2:p.Leu1814TrpfsTer14
XM_006718843.2:c.5441del	XP_006718906.1:p.Leu1814TrpfsTer14
XM_006718845.1:c.1397del	XP_006718908.1:p.Leu466TrpfsTer14
XM_011542840.1:c.5441del	XP_011541142.1:p.Leu1814TrpfsTer14
XM_011542841.1:c.5441del	XP_011541143.1:p.Leu1814TrpfsTer14
XM_011542842.1:c.5276del	XP_011541144.1:p.Leu1759TrpfsTer14
XM_011542843.1:c.5441del	XP_011541145.1:p.Leu1814TrpfsTer14
XM_011542844.1:c.4397del	XP_011541146.1:p.Leu1466TrpfsTer14
XM_011542845.1:c.4133del	XP_011541147.1:p.Leu1378TrpfsTer14
XM_011542847.1:c.512del	XP_011541149.1:p.Leu171TrpfsTer14
NM_001351834.1:c.5441del	NP_001338763.1:p.Leu1814TrpfsTer14
XM_005271562.5:c.5441del	XP_005271619.2:p.Leu1814TrpfsTer14
XM_006718843.4:c.5441del	XP_006718906.1:p.Leu1814TrpfsTer14
XM_006718845.2:c.1397del	XP_006718908.1:p.Leu466TrpfsTer14
XM_011542840.3:c.5441del	XP_011541142.1:p.Leu1814TrpfsTer14
XM_011542842.3:c.5276del	XP_011541144.1:p.Leu1759TrpfsTer14
XM_011542843.2:c.5441del	XP_011541145.1:p.Leu1814TrpfsTer14
XM_011542844.3:c.4397del	XP_011541146.1:p.Leu1466TrpfsTer14
XM_011542845.2:c.4133del	XP_011541147.1:p.Leu1378TrpfsTer14
XM_017017789.2:c.5441del	XP_016873278.1:p.Leu1814TrpfsTer14
XM_017017790.2:c.5441del	XP_016873279.1:p.Leu1814TrpfsTer14
XM_017017791.1:c.5441del	XP_016873280.1:p.Leu1814TrpfsTer14
XR_002957150.1:n.6041del
NM_001351834.2:c.5441del	NP_001338763.1:p.Leu1814TrpfsTer14
NM_000051.4:c.5441del MANE Select	NP_000042.3:p.Leu1814TrpfsTer14