Canonical Allele Identifier: CA2615845412

Gene: ATM

Linked Data

• gnomAD v4: 11-108223087-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223087G>T , CM000673.2:g.108223087G>T	GRCh38
NC_000011.9:g.108093814G>T , CM000673.1:g.108093814G>T	GRCh37
NC_000011.8:g.107599024G>T	NCBI36
NG_009830.1:g.5256G>T , LRG_135:g.5256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-218G>T	ENSP00000388058.2:n.-218G>T
ENST00000683914.2:c.-130G>T	ENSP00000507649.1:n.-130G>T
ENST00000713593.1:c.-130G>T	ENSP00000518889.1:n.-130G>T
ENST00000683174.1:n.21G>T
ENST00000683468.1:c.-4538G>T	ENSP00000508178.1:n.-4538G>T
ENST00000683488.1:n.44G>T
ENST00000527805.6:c.-130G>T	ENSP00000435747.2:n.-130G>T
ENST00000675595.1:c.-130G>T	ENSP00000502563.1:n.-130G>T
ENST00000675843.1:c.-130G>T MANE Select	ENSP00000501606.1:n.-130G>T
ENST00000278616.8:c.-130G>T	ENSP00000278616.4:n.-130G>T
ENST00000527805.5:c.-130G>T	ENSP00000435747.1:n.-130G>T
ENST00000527891.5:c.-130G>T	ENSP00000433955.1:n.-130G>T
NM_000051.3:c.-130G>T , LRG_135t1:c.-130G>T	NP_000042.3:n.-130G>T
XM_011542843.1:c.-130G>T	XP_011541145.1:n.-130G>T
XM_011542846.1:c.-130G>T	XP_011541148.1:n.-130G>T
NM_001351834.1:c.-218G>T	NP_001338763.1:n.-218G>T
NM_001351835.1:c.-130G>T	NP_001338764.1:n.-130G>T
XM_011542842.3:c.-130G>T	XP_011541144.1:n.-130G>T
XM_011542843.2:c.-130G>T	XP_011541145.1:n.-130G>T
XM_011542844.3:c.-1152G>T	XP_011541146.1:n.-1152G>T
XM_017017791.1:c.-130G>T	XP_016873280.1:n.-130G>T
XM_017017792.2:c.-130G>T	XP_016873281.1:n.-130G>T
XR_002957150.1:n.604G>T
NM_001351834.2:c.-218G>T	NP_001338763.1:n.-218G>T
NM_000051.4:c.-130G>T MANE Select	NP_000042.3:n.-130G>T
NM_001351835.2:c.-130G>T	NP_001338764.1:n.-130G>T