Canonical Allele Identifier: CA1139662263
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 929442
ClinVar RCV Id: RCV001194627

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108240425_108244667del , CM000673.2:g.108240425_108244667del GRCh38
NC_000011.9:g.108111152_108115394del , CM000673.1:g.108111152_108115394del GRCh37
NC_000011.8:g.107616362_107620604del NCBI36
NG_009830.1:g.22594_26836del , LRG_135:g.22594_26836del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.497-3528_663-121del
ENST00000713593.1:c.497-3550_*134-121del
ENST00000278616.9:c.497-3528_663-121del
ENST00000682430.1:n.596-3528_762-121del
ENST00000682516.1:n.631-3528_797-121del
ENST00000682956.1:n.631-3528_797-121del
ENST00000683174.1:n.647-3528_813-121del
ENST00000684037.1:c.497-3528_663-121del
ENST00000684061.1:n.631-3528_797-121del
ENST00000684179.1:n.466-3528_632-121del
ENST00000527805.6:c.497-3528_663-121del
ENST00000675595.1:c.332-3528_498-121del
ENST00000675843.1:c.497-3528_663-121del
ENST00000278616.8:c.497-3528_663-121del
ENST00000452508.6:c.497-3528_663-121del
ENST00000527805.5:c.497-3528_663-121del
NM_000051.3:c.497-3528_663-121del , LRG_135t1:c.497-3528_663-121del
XM_005271561.3:c.497-3528_663-121del
XM_005271562.3:c.497-3528_663-121del
XM_006718843.2:c.497-3528_663-121del
XM_011542840.1:c.497-3528_663-121del
XM_011542841.1:c.497-3528_663-121del
XM_011542842.1:c.332-3528_498-121del
XM_011542843.1:c.497-3528_663-121del
XM_011542844.1:c.-526-3550_-382-121del
XM_011542846.1:c.497-3528_663-121del
NM_001351834.1:c.497-3528_663-121del
XM_005271562.5:c.497-3528_663-121del
XM_006718843.4:c.497-3528_663-121del
XM_011542840.3:c.497-3528_663-121del
XM_011542842.3:c.332-3528_498-121del
XM_011542843.2:c.497-3528_663-121del
XM_011542844.3:c.-526-3550_-382-121del
XM_017017789.2:c.497-3528_663-121del
XM_017017790.2:c.497-3528_663-121del
XM_017017791.1:c.497-3528_663-121del
XM_017017792.2:c.497-3528_663-121del
XR_002957150.1:n.1230-3528_1396-121del
NM_001351834.2:c.497-3528_663-121del
NM_000051.4:c.497-3528_663-121del