Canonical Allele Identifier: CA10577423

Gene: ATM

Linked Data

• ClinVar Variation Id: 234796
• ClinVar RCV Id: RCV000222513
• dbSNP Id: rs876661223
• gnomAD v3: 11-108223183-A-AGT
• gnomAD v4: 11-108223183-A-AGT
• MyVariant Identifiers: chr11:g.108093912_108093913dupTG (hg19) ; chr11:g.108223185_108223186dupTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223185_108223186dup , CM000673.2:g.108223185_108223186dup	GRCh38
NC_000011.9:g.108093912_108093913dup , CM000673.1:g.108093912_108093913dup	GRCh37
NC_000011.8:g.107599122_107599123dup	NCBI36
NG_009830.1:g.5354_5355dup , LRG_135:g.5354_5355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-120_-119dup	ENSP00000388058.2:n.-120_-119dup
ENST00000683914.2:c.-32_-31dup	ENSP00000507649.1:n.-32_-31dup
ENST00000713593.1:c.-32_-31dup	ENSP00000518889.1:n.-32_-31dup
ENST00000683150.1:c.-183_-182dup	ENSP00000507125.1:n.-183_-182dup
ENST00000683174.1:n.119_120dup
ENST00000683468.1:c.-4440_-4439dup	ENSP00000508178.1:n.-4440_-4439dup
ENST00000683488.1:n.142_143dup
ENST00000683914.1:c.-32_-31dup	ENSP00000507649.1:n.-32_-31dup
ENST00000527805.6:c.-32_-31dup	ENSP00000435747.2:n.-32_-31dup
ENST00000639240.1:c.-116_-115dup	ENSP00000491585.1:n.-116_-115dup
ENST00000639953.1:c.-204_-203dup	ENSP00000492487.1:n.-204_-203dup
ENST00000640388.1:c.-194_-193dup	ENSP00000492354.1:n.-194_-193dup
ENST00000675595.1:c.-32_-31dup	ENSP00000502563.1:n.-32_-31dup
ENST00000675843.1:c.-32_-31dup MANE Select	ENSP00000501606.1:n.-32_-31dup
ENST00000278616.8:c.-32_-31dup	ENSP00000278616.4:n.-32_-31dup
ENST00000452508.6:c.-120_-119dup	ENSP00000388058.2:n.-120_-119dup
ENST00000527805.5:c.-32_-31dup	ENSP00000435747.1:n.-32_-31dup
ENST00000527891.5:c.-32_-31dup	ENSP00000433955.1:n.-32_-31dup
ENST00000530958.5:c.-4440_-4439dup	ENSP00000483338.1:n.-4440_-4439dup
ENST00000532931.5:c.-106_-105dup	ENSP00000432318.1:n.-106_-105dup
NM_000051.3:c.-32_-31dup , LRG_135t1:c.-32_-31dup	NP_000042.3:n.-32_-31dup
XM_005271561.3:c.-120_-119dup	XP_005271618.2:n.-120_-119dup
XM_011542841.1:c.-823_-822dup	XP_011541143.1:n.-823_-822dup
XM_011542842.1:c.-32_-31dup	XP_011541144.1:n.-32_-31dup
XM_011542843.1:c.-32_-31dup	XP_011541145.1:n.-32_-31dup
XM_011542846.1:c.-32_-31dup	XP_011541148.1:n.-32_-31dup
NM_001351834.1:c.-120_-119dup	NP_001338763.1:n.-120_-119dup
NM_001351835.1:c.-32_-31dup	NP_001338764.1:n.-32_-31dup
XM_011542842.3:c.-32_-31dup	XP_011541144.1:n.-32_-31dup
XM_011542843.2:c.-32_-31dup	XP_011541145.1:n.-32_-31dup
XM_011542844.3:c.-1054_-1053dup	XP_011541146.1:n.-1054_-1053dup
XM_017017791.1:c.-32_-31dup	XP_016873280.1:n.-32_-31dup
XM_017017792.2:c.-32_-31dup	XP_016873281.1:n.-32_-31dup
XR_002957150.1:n.702_703dup
NM_001351834.2:c.-120_-119dup	NP_001338763.1:n.-120_-119dup
NM_000051.4:c.-32_-31dup MANE Select	NP_000042.3:n.-32_-31dup
NM_001351835.2:c.-32_-31dup	NP_001338764.1:n.-32_-31dup