Canonical Allele Identifier: CA942014929

Gene: ATM

Linked Data

• dbSNP Id: rs2078570859
• gnomAD v3: 11-108223143-GC-G
• gnomAD v4: 11-108223143-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223145del , CM000673.2:g.108223145del	GRCh38
NC_000011.9:g.108093872del , CM000673.1:g.108093872del	GRCh37
NC_000011.8:g.107599082del	NCBI36
NG_009830.1:g.5314del , LRG_135:g.5314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-160del	ENSP00000388058.2:n.-160del
ENST00000683914.2:c.-72del	ENSP00000507649.1:n.-72del
ENST00000713593.1:c.-72del	ENSP00000518889.1:n.-72del
ENST00000683174.1:n.79del
ENST00000683468.1:c.-4480del	ENSP00000508178.1:n.-4480del
ENST00000683488.1:n.102del
ENST00000527805.6:c.-72del	ENSP00000435747.2:n.-72del
ENST00000675595.1:c.-72del	ENSP00000502563.1:n.-72del
ENST00000675843.1:c.-72del MANE Select	ENSP00000501606.1:n.-72del
ENST00000278616.8:c.-72del	ENSP00000278616.4:n.-72del
ENST00000452508.6:c.-160del	ENSP00000388058.2:n.-160del
ENST00000527805.5:c.-72del	ENSP00000435747.1:n.-72del
ENST00000527891.5:c.-72del	ENSP00000433955.1:n.-72del
ENST00000530958.5:c.-4480del	ENSP00000483338.1:n.-4480del
ENST00000532931.5:c.-146del	ENSP00000432318.1:n.-146del
NM_000051.3:c.-72del , LRG_135t1:c.-72del	NP_000042.3:n.-72del
XM_005271561.3:c.-160del	XP_005271618.2:n.-160del
XM_011542841.1:c.-863del	XP_011541143.1:n.-863del
XM_011542842.1:c.-72del	XP_011541144.1:n.-72del
XM_011542843.1:c.-72del	XP_011541145.1:n.-72del
XM_011542846.1:c.-72del	XP_011541148.1:n.-72del
NM_001351834.1:c.-160del	NP_001338763.1:n.-160del
NM_001351835.1:c.-72del	NP_001338764.1:n.-72del
XM_011542842.3:c.-72del	XP_011541144.1:n.-72del
XM_011542843.2:c.-72del	XP_011541145.1:n.-72del
XM_011542844.3:c.-1094del	XP_011541146.1:n.-1094del
XM_017017791.1:c.-72del	XP_016873280.1:n.-72del
XM_017017792.2:c.-72del	XP_016873281.1:n.-72del
XR_002957150.1:n.662del
NM_001351834.2:c.-160del	NP_001338763.1:n.-160del
NM_000051.4:c.-72del MANE Select	NP_000042.3:n.-72del
NM_001351835.2:c.-72del	NP_001338764.1:n.-72del