Canonical Allele Identifier: CA942013658

Gene: ATM

Linked Data

• ClinVar Variation Id: 1076406
• ClinVar RCV Id: RCV002404907
• dbSNP Id: rs2080164484
• gnomAD v3: 11-108251851-GT-G
• gnomAD v4: 11-108251851-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251854del , CM000673.2:g.108251854del	GRCh38
NC_000011.9:g.108122581del , CM000673.1:g.108122581del	GRCh37
NC_000011.8:g.107627791del	NCBI36
NG_009830.1:g.34023del , LRG_135:g.34023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1625del	ENSP00000388058.2:p.Leu542Ter
ENST00000713593.1:c.*1096del	ENSP00000518889.1:n.*1096del
ENST00000278616.9:c.1625del	ENSP00000278616.4:p.Leu542Ter
ENST00000682516.1:n.1759del
ENST00000683174.1:n.1775del
ENST00000683605.1:n.1120del
ENST00000684037.1:c.*560del	ENSP00000508245.1:n.*560del
ENST00000684061.1:n.1759del
ENST00000527805.6:c.1625del	ENSP00000435747.2:p.Leu542Ter
ENST00000675595.1:c.1460del	ENSP00000502563.1:p.Leu487Ter
ENST00000675843.1:c.1625del MANE Select	ENSP00000501606.1:p.Leu542Ter
ENST00000278616.8:c.1625del	ENSP00000278616.4:p.Leu542Ter
ENST00000452508.6:c.1625del	ENSP00000388058.2:p.Leu542Ter
ENST00000527805.5:c.1625del	ENSP00000435747.1:p.Leu542Ter
NM_000051.3:c.1625del , LRG_135t1:c.1625del	NP_000042.3:p.Leu542Ter
XM_005271561.3:c.1625del	XP_005271618.2:p.Leu542Ter
XM_005271562.3:c.1625del	XP_005271619.2:p.Leu542Ter
XM_006718843.2:c.1625del	XP_006718906.1:p.Leu542Ter
XM_011542840.1:c.1625del	XP_011541142.1:p.Leu542Ter
XM_011542841.1:c.1625del	XP_011541143.1:p.Leu542Ter
XM_011542842.1:c.1460del	XP_011541144.1:p.Leu487Ter
XM_011542843.1:c.1625del	XP_011541145.1:p.Leu542Ter
XM_011542844.1:c.581del	XP_011541146.1:p.Leu194Ter
XM_011542845.1:c.317del	XP_011541147.1:p.Leu106Ter
XM_011542846.1:c.1625del	XP_011541148.1:p.Leu542Ter
NM_001351834.1:c.1625del	NP_001338763.1:p.Leu542Ter
XM_005271562.5:c.1625del	XP_005271619.2:p.Leu542Ter
XM_006718843.4:c.1625del	XP_006718906.1:p.Leu542Ter
XM_011542840.3:c.1625del	XP_011541142.1:p.Leu542Ter
XM_011542842.3:c.1460del	XP_011541144.1:p.Leu487Ter
XM_011542843.2:c.1625del	XP_011541145.1:p.Leu542Ter
XM_011542844.3:c.581del	XP_011541146.1:p.Leu194Ter
XM_011542845.2:c.317del	XP_011541147.1:p.Leu106Ter
XM_017017789.2:c.1625del	XP_016873278.1:p.Leu542Ter
XM_017017790.2:c.1625del	XP_016873279.1:p.Leu542Ter
XM_017017791.1:c.1625del	XP_016873280.1:p.Leu542Ter
XM_017017792.2:c.1625del	XP_016873281.1:p.Leu542Ter
XR_002957150.1:n.2358del
NM_001351834.2:c.1625del	NP_001338763.1:p.Leu542Ter
NM_000051.4:c.1625del MANE Select	NP_000042.3:p.Leu542Ter