Canonical Allele Identifier: CA645569705

Gene: ATM

Linked Data - Expert Curation

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250682_108250718del , CM000673.2:g.108250682_108250718del	GRCh38
NC_000011.9:g.108121409_108121445del , CM000673.1:g.108121409_108121445del	GRCh37
NC_000011.8:g.107626619_107626655del	NCBI36
NG_009830.1:g.32851_32887del , LRG_135:g.32851_32887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1236-19_1253del
ENST00000713593.1:c.*707-19_*724del
ENST00000278616.9:c.1236-19_1253del
ENST00000682516.1:n.1370-19_1387del
ENST00000682956.1:n.1370-19_1387del
ENST00000683174.1:n.1386-19_1403del
ENST00000683605.1:n.731-19_748del
ENST00000684037.1:c.*171-19_*188del
ENST00000684061.1:n.1370-19_1387del
ENST00000684179.1:n.1205-19_1222del
ENST00000527805.6:c.1236-19_1253del
ENST00000675595.1:c.1071-19_1088del
ENST00000675843.1:c.1236-19_1253del
ENST00000278616.8:c.1236-19_1253del
ENST00000452508.6:c.1236-19_1253del
ENST00000527805.5:c.1236-19_1253del
NM_000051.3:c.1236-19_1253del , LRG_135t1:c.1236-19_1253del
XM_005271561.3:c.1236-19_1253del
XM_005271562.3:c.1236-19_1253del
XM_006718843.2:c.1236-19_1253del
XM_011542840.1:c.1236-19_1253del
XM_011542841.1:c.1236-19_1253del
XM_011542842.1:c.1071-19_1088del
XM_011542843.1:c.1236-19_1253del
XM_011542844.1:c.192-19_209del
XM_011542845.1:c.-73-19_-56del
XM_011542846.1:c.1236-19_1253del
NM_001351834.1:c.1236-19_1253del
XM_005271562.5:c.1236-19_1253del
XM_006718843.4:c.1236-19_1253del
XM_011542840.3:c.1236-19_1253del
XM_011542842.3:c.1071-19_1088del
XM_011542843.2:c.1236-19_1253del
XM_011542844.3:c.192-19_209del
XM_011542845.2:c.-73-19_-56del
XM_017017789.2:c.1236-19_1253del
XM_017017790.2:c.1236-19_1253del
XM_017017791.1:c.1236-19_1253del
XM_017017792.2:c.1236-19_1253del
XR_002957150.1:n.1969-19_1986del
NM_001351834.2:c.1236-19_1253del
NM_000051.4:c.1236-19_1253del