Canonical Allele Identifier: CA16613377

Gene: ATM

Linked Data

• ClinVar Variation Id: 414526
• ClinVar RCV Id: RCV000463142 ; RCV000567194 ; RCV001591120
• dbSNP Id: rs1060504260
• gnomAD v4: 11-108271133-C-T
• MyVariant Identifiers: chr11:g.108141860C>T (hg19) ; chr11:g.108271133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108271133C>T , CM000673.2:g.108271133C>T	GRCh38
NC_000011.9:g.108141860C>T , CM000673.1:g.108141860C>T	GRCh37
NC_000011.8:g.107647070C>T	NCBI36
NG_009830.1:g.53302C>T , LRG_135:g.53302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2908C>T	ENSP00000388058.2:p.Leu970=
ENST00000713593.1:c.*2379C>T	ENSP00000518889.1:n.*2379C>T
ENST00000278616.9:c.2908C>T	ENSP00000278616.4:p.Leu970=
ENST00000682516.1:n.2842C>T
ENST00000683174.1:n.3058C>T
ENST00000684037.1:c.*1643C>T	ENSP00000508245.1:n.*1643C>T
ENST00000527805.6:c.2908C>T	ENSP00000435747.2:p.Leu970=
ENST00000675595.1:c.2743C>T	ENSP00000502563.1:p.Leu915=
ENST00000675843.1:c.2908C>T MANE Select	ENSP00000501606.1:p.Leu970=
ENST00000278616.8:c.2908C>T	ENSP00000278616.4:p.Leu970=
ENST00000419286.2:n.201-118C>T
ENST00000452508.6:c.2908C>T	ENSP00000388058.2:p.Leu970=
ENST00000527805.5:c.2908C>T	ENSP00000435747.1:p.Leu970=
NM_000051.3:c.2908C>T , LRG_135t1:c.2908C>T	NP_000042.3:p.Leu970=
XM_005271561.3:c.2908C>T	XP_005271618.2:p.Leu970=
XM_005271562.3:c.2908C>T	XP_005271619.2:p.Leu970=
XM_006718843.2:c.2908C>T	XP_006718906.1:p.Leu970=
XM_011542840.1:c.2908C>T	XP_011541142.1:p.Leu970=
XM_011542841.1:c.2908C>T	XP_011541143.1:p.Leu970=
XM_011542842.1:c.2743C>T	XP_011541144.1:p.Leu915=
XM_011542843.1:c.2908C>T	XP_011541145.1:p.Leu970=
XM_011542844.1:c.1864C>T	XP_011541146.1:p.Leu622=
XM_011542845.1:c.1600C>T	XP_011541147.1:p.Leu534=
XM_011542846.1:c.2908C>T	XP_011541148.1:p.Leu970=
NM_001351834.1:c.2908C>T	NP_001338763.1:p.Leu970=
XM_005271562.5:c.2908C>T	XP_005271619.2:p.Leu970=
XM_006718843.4:c.2908C>T	XP_006718906.1:p.Leu970=
XM_011542840.3:c.2908C>T	XP_011541142.1:p.Leu970=
XM_011542842.3:c.2743C>T	XP_011541144.1:p.Leu915=
XM_011542843.2:c.2908C>T	XP_011541145.1:p.Leu970=
XM_011542844.3:c.1864C>T	XP_011541146.1:p.Leu622=
XM_011542845.2:c.1600C>T	XP_011541147.1:p.Leu534=
XM_017017789.2:c.2908C>T	XP_016873278.1:p.Leu970=
XM_017017790.2:c.2908C>T	XP_016873279.1:p.Leu970=
XM_017017791.1:c.2908C>T	XP_016873280.1:p.Leu970=
XM_017017792.2:c.2908C>T	XP_016873281.1:p.Leu970=
XR_002957150.1:n.3641C>T
NM_001351834.2:c.2908C>T	NP_001338763.1:p.Leu970=
NM_000051.4:c.2908C>T MANE Select	NP_000042.3:p.Leu970=