Canonical Allele Identifier: CA2615844534

Gene: ATM

Linked Data

• gnomAD v4: 11-108222913-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222916dup , CM000673.2:g.108222916dup	GRCh38
NC_000011.9:g.108093643dup , CM000673.1:g.108093643dup	GRCh37
NC_000011.8:g.107598853dup	NCBI36
NG_009830.1:g.5085dup , LRG_135:g.5085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-389dup	ENSP00000388058.2:n.-389dup
ENST00000683914.2:c.-301dup	ENSP00000507649.1:n.-301dup
ENST00000278616.8:c.-301dup	ENSP00000278616.4:n.-301dup
ENST00000527805.5:c.-301dup	ENSP00000435747.1:n.-301dup
NM_000051.3:c.-301dup , LRG_135t1:c.-301dup	NP_000042.3:n.-301dup
XM_011542843.1:c.-301dup	XP_011541145.1:n.-301dup
XM_011542846.1:c.-301dup	XP_011541148.1:n.-301dup
NM_001351834.1:c.-389dup	NP_001338763.1:n.-389dup
NM_001351835.1:c.-301dup	NP_001338764.1:n.-301dup
XM_011542842.3:c.-301dup	XP_011541144.1:n.-301dup
XM_011542843.2:c.-301dup	XP_011541145.1:n.-301dup
XM_011542844.3:c.-1323dup	XP_011541146.1:n.-1323dup
XM_017017791.1:c.-301dup	XP_016873280.1:n.-301dup
XM_017017792.2:c.-301dup	XP_016873281.1:n.-301dup
XR_002957150.1:n.433dup