Canonical Allele Identifier: CA1998757846

Gene: ATM

Linked Data

• dbSNP Id: rs2078558877
• gnomAD v4: 11-108222936-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222940dup , CM000673.2:g.108222940dup	GRCh38
NC_000011.9:g.108093667dup , CM000673.1:g.108093667dup	GRCh37
NC_000011.8:g.107598877dup	NCBI36
NG_009830.1:g.5109dup , LRG_135:g.5109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-365dup	ENSP00000388058.2:n.-365dup
ENST00000683914.2:c.-277dup	ENSP00000507649.1:n.-277dup
ENST00000278616.8:c.-277dup	ENSP00000278616.4:n.-277dup
ENST00000527805.5:c.-277dup	ENSP00000435747.1:n.-277dup
NM_000051.3:c.-277dup , LRG_135t1:c.-277dup	NP_000042.3:n.-277dup
XM_011542843.1:c.-277dup	XP_011541145.1:n.-277dup
XM_011542846.1:c.-277dup	XP_011541148.1:n.-277dup
NM_001351834.1:c.-365dup	NP_001338763.1:n.-365dup
NM_001351835.1:c.-277dup	NP_001338764.1:n.-277dup
XM_011542842.3:c.-277dup	XP_011541144.1:n.-277dup
XM_011542843.2:c.-277dup	XP_011541145.1:n.-277dup
XM_011542844.3:c.-1299dup	XP_011541146.1:n.-1299dup
XM_017017791.1:c.-277dup	XP_016873280.1:n.-277dup
XM_017017792.2:c.-277dup	XP_016873281.1:n.-277dup
XR_002957150.1:n.457dup