Canonical Allele Identifier: CA10584349

Gene: ATM

Linked Data

• ClinVar Variation Id: 246001
• ClinVar RCV Id: RCV000235542 ; RCV001188317 ; RCV003463698 ; RCV003605615
• dbSNP Id: rs879254041
• gnomAD v4: 11-108302948-GA-G
• MyVariant Identifiers: chr11:g.108173676del (hg19) ; chr11:g.108302949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302949del , CM000673.2:g.108302949del	GRCh38
NC_000011.9:g.108173676del , CM000673.1:g.108173676del	GRCh37
NC_000011.8:g.107678886del	NCBI36
NG_009830.1:g.85118del , LRG_135:g.85118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5416del	ENSP00000388058.2:p.Ile1806Ter
ENST00000713593.1:c.*4887del	ENSP00000518889.1:n.*4887del
ENST00000278616.9:c.5416del	ENSP00000278616.4:p.Ile1806Ter
ENST00000683174.1:n.6900del
ENST00000683524.1:n.640del
ENST00000684152.1:n.1130del
ENST00000527805.6:c.*480del	ENSP00000435747.2:n.*480del
ENST00000675595.1:c.*480del	ENSP00000502563.1:n.*480del
ENST00000675843.1:c.5416del MANE Select	ENSP00000501606.1:p.Ile1806Ter
ENST00000278616.8:c.5416del	ENSP00000278616.4:p.Ile1806Ter
ENST00000452508.6:c.5416del	ENSP00000388058.2:p.Ile1806Ter
ENST00000524792.5:n.1631del
ENST00000533690.5:n.820del
ENST00000534625.1:n.645del
NM_000051.3:c.5416del , LRG_135t1:c.5416del	NP_000042.3:p.Ile1806Ter
XM_005271561.3:c.5416del	XP_005271618.2:p.Ile1806Ter
XM_005271562.3:c.5416del	XP_005271619.2:p.Ile1806Ter
XM_006718843.2:c.5416del	XP_006718906.1:p.Ile1806Ter
XM_006718845.1:c.1372del	XP_006718908.1:p.Ile458Ter
XM_011542840.1:c.5416del	XP_011541142.1:p.Ile1806Ter
XM_011542841.1:c.5416del	XP_011541143.1:p.Ile1806Ter
XM_011542842.1:c.5251del	XP_011541144.1:p.Ile1751Ter
XM_011542843.1:c.5416del	XP_011541145.1:p.Ile1806Ter
XM_011542844.1:c.4372del	XP_011541146.1:p.Ile1458Ter
XM_011542845.1:c.4108del	XP_011541147.1:p.Ile1370Ter
XM_011542846.1:c.*74del	XP_011541148.1:n.*74del
XM_011542847.1:c.487del	XP_011541149.1:p.Ile163Ter
NM_001351834.1:c.5416del	NP_001338763.1:p.Ile1806Ter
XM_005271562.5:c.5416del	XP_005271619.2:p.Ile1806Ter
XM_006718843.4:c.5416del	XP_006718906.1:p.Ile1806Ter
XM_006718845.2:c.1372del	XP_006718908.1:p.Ile458Ter
XM_011542840.3:c.5416del	XP_011541142.1:p.Ile1806Ter
XM_011542842.3:c.5251del	XP_011541144.1:p.Ile1751Ter
XM_011542843.2:c.5416del	XP_011541145.1:p.Ile1806Ter
XM_011542844.3:c.4372del	XP_011541146.1:p.Ile1458Ter
XM_011542845.2:c.4108del	XP_011541147.1:p.Ile1370Ter
XM_017017789.2:c.5416del	XP_016873278.1:p.Ile1806Ter
XM_017017790.2:c.5416del	XP_016873279.1:p.Ile1806Ter
XM_017017791.1:c.5416del	XP_016873280.1:p.Ile1806Ter
XR_002957150.1:n.6016del
NM_001351834.2:c.5416del	NP_001338763.1:p.Ile1806Ter
NM_000051.4:c.5416del MANE Select	NP_000042.3:p.Ile1806Ter