Canonical Allele Identifier: CA16606140

Gene: ATM

Linked Data

• ClinVar Variation Id: 388798
• ClinVar RCV Id: RCV000444238
• dbSNP Id: rs1057523231
• MyVariant Identifiers: chr11:g.108093897A>G (hg19) ; chr11:g.108223170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223170A>G , CM000673.2:g.108223170A>G	GRCh38
NC_000011.9:g.108093897A>G , CM000673.1:g.108093897A>G	GRCh37
NC_000011.8:g.107599107A>G	NCBI36
NG_009830.1:g.5339A>G , LRG_135:g.5339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-135A>G	ENSP00000388058.2:n.-135A>G
ENST00000683914.2:c.-47A>G	ENSP00000507649.1:n.-47A>G
ENST00000713593.1:c.-47A>G	ENSP00000518889.1:n.-47A>G
ENST00000683150.1:c.-198A>G	ENSP00000507125.1:n.-198A>G
ENST00000683174.1:n.104A>G
ENST00000683468.1:c.-4455A>G	ENSP00000508178.1:n.-4455A>G
ENST00000683488.1:n.127A>G
ENST00000683914.1:c.-47A>G	ENSP00000507649.1:n.-47A>G
ENST00000527805.6:c.-47A>G	ENSP00000435747.2:n.-47A>G
ENST00000675595.1:c.-47A>G	ENSP00000502563.1:n.-47A>G
ENST00000675843.1:c.-47A>G MANE Select	ENSP00000501606.1:n.-47A>G
ENST00000278616.8:c.-47A>G	ENSP00000278616.4:n.-47A>G
ENST00000452508.6:c.-135A>G	ENSP00000388058.2:n.-135A>G
ENST00000527805.5:c.-47A>G	ENSP00000435747.1:n.-47A>G
ENST00000527891.5:c.-47A>G	ENSP00000433955.1:n.-47A>G
ENST00000530958.5:c.-4455A>G	ENSP00000483338.1:n.-4455A>G
ENST00000532931.5:c.-121A>G	ENSP00000432318.1:n.-121A>G
NM_000051.3:c.-47A>G , LRG_135t1:c.-47A>G	NP_000042.3:n.-47A>G
XM_005271561.3:c.-135A>G	XP_005271618.2:n.-135A>G
XM_011542841.1:c.-838A>G	XP_011541143.1:n.-838A>G
XM_011542842.1:c.-47A>G	XP_011541144.1:n.-47A>G
XM_011542843.1:c.-47A>G	XP_011541145.1:n.-47A>G
XM_011542846.1:c.-47A>G	XP_011541148.1:n.-47A>G
NM_001351834.1:c.-135A>G	NP_001338763.1:n.-135A>G
NM_001351835.1:c.-47A>G	NP_001338764.1:n.-47A>G
XM_011542842.3:c.-47A>G	XP_011541144.1:n.-47A>G
XM_011542843.2:c.-47A>G	XP_011541145.1:n.-47A>G
XM_011542844.3:c.-1069A>G	XP_011541146.1:n.-1069A>G
XM_017017791.1:c.-47A>G	XP_016873280.1:n.-47A>G
XM_017017792.2:c.-47A>G	XP_016873281.1:n.-47A>G
XR_002957150.1:n.687A>G
NM_001351834.2:c.-135A>G	NP_001338763.1:n.-135A>G
NM_000051.4:c.-47A>G MANE Select	NP_000042.3:n.-47A>G
NM_001351835.2:c.-47A>G	NP_001338764.1:n.-47A>G