Canonical Allele Identifier: CA1998758075

Gene: ATM

Linked Data

• dbSNP Id: rs1591430844
• gnomAD v4: 11-108223114-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223114A>G , CM000673.2:g.108223114A>G	GRCh38
NC_000011.9:g.108093841A>G , CM000673.1:g.108093841A>G	GRCh37
NC_000011.8:g.107599051A>G	NCBI36
NG_009830.1:g.5283A>G , LRG_135:g.5283A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.-191A>G	ENSP00000388058.2:n.-191A>G
ENST00000683914.2:c.-103A>G	ENSP00000507649.1:n.-103A>G
ENST00000713593.1:c.-103A>G	ENSP00000518889.1:n.-103A>G
ENST00000683174.1:n.48A>G
ENST00000683468.1:c.-4511A>G	ENSP00000508178.1:n.-4511A>G
ENST00000683488.1:n.71A>G
ENST00000527805.6:c.-103A>G	ENSP00000435747.2:n.-103A>G
ENST00000675595.1:c.-103A>G	ENSP00000502563.1:n.-103A>G
ENST00000675843.1:c.-103A>G MANE Select	ENSP00000501606.1:n.-103A>G
ENST00000278616.8:c.-103A>G	ENSP00000278616.4:n.-103A>G
ENST00000527805.5:c.-103A>G	ENSP00000435747.1:n.-103A>G
ENST00000527891.5:c.-103A>G	ENSP00000433955.1:n.-103A>G
ENST00000530958.5:c.-4511A>G	ENSP00000483338.1:n.-4511A>G
ENST00000532931.5:c.-177A>G	ENSP00000432318.1:n.-177A>G
NM_000051.3:c.-103A>G , LRG_135t1:c.-103A>G	NP_000042.3:n.-103A>G
XM_005271561.3:c.-191A>G	XP_005271618.2:n.-191A>G
XM_011542841.1:c.-894A>G	XP_011541143.1:n.-894A>G
XM_011542842.1:c.-103A>G	XP_011541144.1:n.-103A>G
XM_011542843.1:c.-103A>G	XP_011541145.1:n.-103A>G
XM_011542846.1:c.-103A>G	XP_011541148.1:n.-103A>G
NM_001351834.1:c.-191A>G	NP_001338763.1:n.-191A>G
NM_001351835.1:c.-103A>G	NP_001338764.1:n.-103A>G
XM_011542842.3:c.-103A>G	XP_011541144.1:n.-103A>G
XM_011542843.2:c.-103A>G	XP_011541145.1:n.-103A>G
XM_011542844.3:c.-1125A>G	XP_011541146.1:n.-1125A>G
XM_017017791.1:c.-103A>G	XP_016873280.1:n.-103A>G
XM_017017792.2:c.-103A>G	XP_016873281.1:n.-103A>G
XR_002957150.1:n.631A>G
NM_001351834.2:c.-191A>G	NP_001338763.1:n.-191A>G
NM_000051.4:c.-103A>G MANE Select	NP_000042.3:n.-103A>G
NM_001351835.2:c.-103A>G	NP_001338764.1:n.-103A>G