Canonical Allele Identifier: CA2574971113

Gene: ATM

Linked Data

• dbSNP Id: rs1565473249
• gnomAD v4: 11-108299639-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299639T>A , CM000673.2:g.108299639T>A	GRCh38
NC_000011.9:g.108170366T>A , CM000673.1:g.108170366T>A	GRCh37
NC_000011.8:g.107675576T>A	NCBI36
NG_009830.1:g.81808T>A , LRG_135:g.81808T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5006-75T>A	ENSP00000388058.2:n.5006-75T>A
ENST00000713593.1:c.*4477-75T>A	ENSP00000518889.1:n.*4477-75T>A
ENST00000278616.9:c.5006-75T>A	ENSP00000278616.4:n.5006-75T>A
ENST00000683174.1:n.6490-75T>A
ENST00000683524.1:n.230-75T>A
ENST00000684152.1:n.720-75T>A
ENST00000527805.6:c.*70-75T>A	ENSP00000435747.2:n.*70-75T>A
ENST00000675595.1:c.*70-75T>A	ENSP00000502563.1:n.*70-75T>A
ENST00000675843.1:c.5006-75T>A MANE Select	ENSP00000501606.1:n.5006-75T>A
ENST00000278616.8:c.5006-75T>A	ENSP00000278616.4:n.5006-75T>A
ENST00000452508.6:c.5006-75T>A	ENSP00000388058.2:n.5006-75T>A
ENST00000524792.5:n.1221-75T>A
ENST00000533690.5:n.410-75T>A
ENST00000534625.1:n.160T>A
NM_000051.3:c.5006-75T>A , LRG_135t1:c.5006-75T>A	NP_000042.3:n.5006-75T>A
XM_005271561.3:c.5006-75T>A	XP_005271618.2:n.5006-75T>A
XM_005271562.3:c.5006-75T>A	XP_005271619.2:n.5006-75T>A
XM_006718843.2:c.5006-75T>A	XP_006718906.1:n.5006-75T>A
XM_006718845.1:c.962-75T>A	XP_006718908.1:n.962-75T>A
XM_011542840.1:c.5006-75T>A	XP_011541142.1:n.5006-75T>A
XM_011542841.1:c.5006-75T>A	XP_011541143.1:n.5006-75T>A
XM_011542842.1:c.4841-75T>A	XP_011541144.1:n.4841-75T>A
XM_011542843.1:c.5006-75T>A	XP_011541145.1:n.5006-75T>A
XM_011542844.1:c.3962-75T>A	XP_011541146.1:n.3962-75T>A
XM_011542845.1:c.3698-75T>A	XP_011541147.1:n.3698-75T>A
XM_011542846.1:c.5006-75T>A	XP_011541148.1:n.5006-75T>A
XM_011542847.1:c.77-75T>A	XP_011541149.1:n.77-75T>A
NM_001351834.1:c.5006-75T>A	NP_001338763.1:n.5006-75T>A
XM_005271562.5:c.5006-75T>A	XP_005271619.2:n.5006-75T>A
XM_006718843.4:c.5006-75T>A	XP_006718906.1:n.5006-75T>A
XM_006718845.2:c.962-75T>A	XP_006718908.1:n.962-75T>A
XM_011542840.3:c.5006-75T>A	XP_011541142.1:n.5006-75T>A
XM_011542842.3:c.4841-75T>A	XP_011541144.1:n.4841-75T>A
XM_011542843.2:c.5006-75T>A	XP_011541145.1:n.5006-75T>A
XM_011542844.3:c.3962-75T>A	XP_011541146.1:n.3962-75T>A
XM_011542845.2:c.3698-75T>A	XP_011541147.1:n.3698-75T>A
XM_017017789.2:c.5006-75T>A	XP_016873278.1:n.5006-75T>A
XM_017017790.2:c.5006-75T>A	XP_016873279.1:n.5006-75T>A
XM_017017791.1:c.5006-75T>A	XP_016873280.1:n.5006-75T>A
XM_017017792.2:c.5006-75T>A	XP_016873281.1:n.5006-75T>A
XR_002957150.1:n.5606-75T>A
NM_001351834.2:c.5006-75T>A	NP_001338763.1:n.5006-75T>A
NM_000051.4:c.5006-75T>A MANE Select	NP_000042.3:n.5006-75T>A