Canonical Allele Identifier: CA2615853613
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267166_108267172del , CM000673.2:g.108267166_108267172del GRCh38
NC_000011.9:g.108137893_108137899del , CM000673.1:g.108137893_108137899del GRCh37
NC_000011.8:g.107643103_107643109del NCBI36
NG_009830.1:g.49335_49341del , LRG_135:g.49335_49341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2467-5_2468del
ENST00000713593.1:c.*1938-5_*1939del
ENST00000278616.9:c.2467-5_2468del
ENST00000682516.1:n.2601-5_2602del
ENST00000683174.1:n.2617-5_2618del
ENST00000683605.1:n.1962-5_1963del
ENST00000684037.1:c.*1402-5_*1403del
ENST00000527805.6:c.2467-5_2468del
ENST00000675595.1:c.2302-5_2303del
ENST00000675843.1:c.2467-5_2468del
ENST00000278616.8:c.2467-5_2468del
ENST00000452508.6:c.2467-5_2468del
ENST00000527805.5:c.2467-5_2468del
NM_000051.3:c.2467-5_2468del , LRG_135t1:c.2467-5_2468del
XM_005271561.3:c.2467-5_2468del
XM_005271562.3:c.2467-5_2468del
XM_006718843.2:c.2467-5_2468del
XM_011542840.1:c.2467-5_2468del
XM_011542841.1:c.2467-5_2468del
XM_011542842.1:c.2302-5_2303del
XM_011542843.1:c.2467-5_2468del
XM_011542844.1:c.1423-5_1424del
XM_011542845.1:c.1159-5_1160del
XM_011542846.1:c.2467-5_2468del
NM_001351834.1:c.2467-5_2468del
XM_005271562.5:c.2467-5_2468del
XM_006718843.4:c.2467-5_2468del
XM_011542840.3:c.2467-5_2468del
XM_011542842.3:c.2302-5_2303del
XM_011542843.2:c.2467-5_2468del
XM_011542844.3:c.1423-5_1424del
XM_011542845.2:c.1159-5_1160del
XM_017017789.2:c.2467-5_2468del
XM_017017790.2:c.2467-5_2468del
XM_017017791.1:c.2467-5_2468del
XM_017017792.2:c.2467-5_2468del
XR_002957150.1:n.3200-5_3201del
NM_001351834.2:c.2467-5_2468del
NM_000051.4:c.2467-5_2468del