Canonical Allele Identifier: CA915944415

Gene: ATM

Linked Data

• ClinVar Variation Id: 824725
• ClinVar RCV Id: RCV001022146 ; RCV003769555
• dbSNP Id: rs1591662606
• gnomAD v3: 11-108289616-A-AATTCTTCT
• gnomAD v4: 11-108289616-A-AATTCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289617_108289624dup , CM000673.2:g.108289617_108289624dup	GRCh38
NC_000011.9:g.108160344_108160351dup , CM000673.1:g.108160344_108160351dup	GRCh37
NC_000011.8:g.107665554_107665561dup	NCBI36
NG_009830.1:g.71786_71793dup , LRG_135:g.71786_71793dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4252_4259dup	ENSP00000388058.2:p.Ala1421PhefsTer?
ENST00000713593.1:c.*3723_*3730dup	ENSP00000518889.1:n.*3723_*3730dup
ENST00000278616.9:c.4252_4259dup	ENSP00000278616.4:p.Ala1421PhefsTer?
ENST00000533733.6:n.1515_1522dup
ENST00000683174.1:n.4402_4409dup
ENST00000527805.6:c.4252_4259dup	ENSP00000435747.2:p.Ala1421PhefsTer?
ENST00000675595.1:c.4087_4094dup	ENSP00000502563.1:p.Ala1366PhefsTer?
ENST00000675843.1:c.4252_4259dup MANE Select	ENSP00000501606.1:p.Ala1421PhefsTer?
ENST00000278616.8:c.4252_4259dup	ENSP00000278616.4:p.Ala1421PhefsTer?
ENST00000452508.6:c.4252_4259dup	ENSP00000388058.2:p.Ala1421PhefsTer?
ENST00000524792.5:n.467_474dup
ENST00000531525.2:c.259_266dup	ENSP00000434327.2:p.Ala90PhefsTer?
ENST00000533733.5:n.681_688dup
NM_000051.3:c.4252_4259dup , LRG_135t1:c.4252_4259dup	NP_000042.3:p.Ala1421PhefsTer?
XM_005271561.3:c.4252_4259dup	XP_005271618.2:p.Ala1421PhefsTer?
XM_005271562.3:c.4252_4259dup	XP_005271619.2:p.Ala1421PhefsTer?
XM_006718843.2:c.4252_4259dup	XP_006718906.1:p.Ala1421PhefsTer?
XM_006718845.1:c.208_215dup	XP_006718908.1:p.Ala73PhefsTer?
XM_011542840.1:c.4252_4259dup	XP_011541142.1:p.Ala1421PhefsTer?
XM_011542841.1:c.4252_4259dup	XP_011541143.1:p.Ala1421PhefsTer?
XM_011542842.1:c.4087_4094dup	XP_011541144.1:p.Ala1366PhefsTer?
XM_011542843.1:c.4252_4259dup	XP_011541145.1:p.Ala1421PhefsTer?
XM_011542844.1:c.3208_3215dup	XP_011541146.1:p.Ala1073PhefsTer?
XM_011542845.1:c.2944_2951dup	XP_011541147.1:p.Ala985PhefsTer?
XM_011542846.1:c.4252_4259dup	XP_011541148.1:p.Ala1421PhefsTer?
NM_001351834.1:c.4252_4259dup	NP_001338763.1:p.Ala1421PhefsTer?
XM_005271562.5:c.4252_4259dup	XP_005271619.2:p.Ala1421PhefsTer?
XM_006718843.4:c.4252_4259dup	XP_006718906.1:p.Ala1421PhefsTer?
XM_006718845.2:c.208_215dup	XP_006718908.1:p.Ala73PhefsTer?
XM_011542840.3:c.4252_4259dup	XP_011541142.1:p.Ala1421PhefsTer?
XM_011542842.3:c.4087_4094dup	XP_011541144.1:p.Ala1366PhefsTer?
XM_011542843.2:c.4252_4259dup	XP_011541145.1:p.Ala1421PhefsTer?
XM_011542844.3:c.3208_3215dup	XP_011541146.1:p.Ala1073PhefsTer?
XM_011542845.2:c.2944_2951dup	XP_011541147.1:p.Ala985PhefsTer?
XM_017017789.2:c.4252_4259dup	XP_016873278.1:p.Ala1421PhefsTer?
XM_017017790.2:c.4252_4259dup	XP_016873279.1:p.Ala1421PhefsTer?
XM_017017791.1:c.4252_4259dup	XP_016873280.1:p.Ala1421PhefsTer?
XM_017017792.2:c.4252_4259dup	XP_016873281.1:p.Ala1421PhefsTer?
XR_002957150.1:n.4985_4992dup
NM_001351834.2:c.4252_4259dup	NP_001338763.1:p.Ala1421PhefsTer?
NM_000051.4:c.4252_4259dup MANE Select	NP_000042.3:p.Ala1421PhefsTer?