Canonical Allele Identifier: CA2615845552

Gene: ATM

Linked Data

• gnomAD v4: 11-108223116-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223116G>A , CM000673.2:g.108223116G>A	GRCh38
NC_000011.9:g.108093843G>A , CM000673.1:g.108093843G>A	GRCh37
NC_000011.8:g.107599053G>A	NCBI36
NG_009830.1:g.5285G>A , LRG_135:g.5285G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.-189G>A	ENSP00000388058.2:n.-189G>A
ENST00000683914.2:c.-101G>A	ENSP00000507649.1:n.-101G>A
ENST00000713593.1:c.-101G>A	ENSP00000518889.1:n.-101G>A
ENST00000683174.1:n.50G>A
ENST00000683468.1:c.-4509G>A	ENSP00000508178.1:n.-4509G>A
ENST00000683488.1:n.73G>A
ENST00000527805.6:c.-101G>A	ENSP00000435747.2:n.-101G>A
ENST00000675595.1:c.-101G>A	ENSP00000502563.1:n.-101G>A
ENST00000675843.1:c.-101G>A MANE Select	ENSP00000501606.1:n.-101G>A
ENST00000278616.8:c.-101G>A	ENSP00000278616.4:n.-101G>A
ENST00000452508.6:c.-189G>A	ENSP00000388058.2:n.-189G>A
ENST00000527805.5:c.-101G>A	ENSP00000435747.1:n.-101G>A
ENST00000527891.5:c.-101G>A	ENSP00000433955.1:n.-101G>A
ENST00000530958.5:c.-4509G>A	ENSP00000483338.1:n.-4509G>A
ENST00000532931.5:c.-175G>A	ENSP00000432318.1:n.-175G>A
NM_000051.3:c.-101G>A , LRG_135t1:c.-101G>A	NP_000042.3:n.-101G>A
XM_005271561.3:c.-189G>A	XP_005271618.2:n.-189G>A
XM_011542841.1:c.-892G>A	XP_011541143.1:n.-892G>A
XM_011542842.1:c.-101G>A	XP_011541144.1:n.-101G>A
XM_011542843.1:c.-101G>A	XP_011541145.1:n.-101G>A
XM_011542846.1:c.-101G>A	XP_011541148.1:n.-101G>A
NM_001351834.1:c.-189G>A	NP_001338763.1:n.-189G>A
NM_001351835.1:c.-101G>A	NP_001338764.1:n.-101G>A
XM_011542842.3:c.-101G>A	XP_011541144.1:n.-101G>A
XM_011542843.2:c.-101G>A	XP_011541145.1:n.-101G>A
XM_011542844.3:c.-1123G>A	XP_011541146.1:n.-1123G>A
XM_017017791.1:c.-101G>A	XP_016873280.1:n.-101G>A
XM_017017792.2:c.-101G>A	XP_016873281.1:n.-101G>A
XR_002957150.1:n.633G>A
NM_001351834.2:c.-189G>A	NP_001338763.1:n.-189G>A
NM_000051.4:c.-101G>A MANE Select	NP_000042.3:n.-101G>A
NM_001351835.2:c.-101G>A	NP_001338764.1:n.-101G>A