Canonical Allele Identifier: CA2580615042

Gene: ATM

Linked Data

• ClinVar Variation Id: 2032609
• ClinVar RCV Id: RCV002884994

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304662_108304665del , CM000673.2:g.108304662_108304665del	GRCh38
NC_000011.9:g.108175389_108175392del , CM000673.1:g.108175389_108175392del	GRCh37
NC_000011.8:g.107680599_107680602del	NCBI36
NG_009830.1:g.86831_86834del , LRG_135:g.86831_86834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5497-13_5497-10del	ENSP00000388058.2:n.5497-13_5497-10del
ENST00000713593.1:c.*4968-13_*4968-10del	ENSP00000518889.1:n.*4968-13_*4968-10del
ENST00000278616.9:c.5497-13_5497-10del	ENSP00000278616.4:n.5497-13_5497-10del
ENST00000683174.1:n.6981-13_6981-10del
ENST00000683524.1:n.721-13_721-10del
ENST00000684152.1:n.1211-13_1211-10del
ENST00000527805.6:c.*561-13_*561-10del	ENSP00000435747.2:n.*561-13_*561-10del
ENST00000675595.1:c.*561-13_*561-10del	ENSP00000502563.1:n.*561-13_*561-10del
ENST00000675843.1:c.5497-13_5497-10del MANE Select	ENSP00000501606.1:n.5497-13_5497-10del
ENST00000278616.8:c.5497-13_5497-10del	ENSP00000278616.4:n.5497-13_5497-10del
ENST00000452508.6:c.5497-13_5497-10del	ENSP00000388058.2:n.5497-13_5497-10del
ENST00000524792.5:n.1712-13_1712-10del
ENST00000529588.5:c.9-13_9-10del
ENST00000533690.5:n.901-13_901-10del
NM_000051.3:c.5497-13_5497-10del , LRG_135t1:c.5497-13_5497-10del	NP_000042.3:n.5497-13_5497-10del
XM_005271561.3:c.5497-13_5497-10del	XP_005271618.2:n.5497-13_5497-10del
XM_005271562.3:c.5497-13_5497-10del	XP_005271619.2:n.5497-13_5497-10del
XM_006718843.2:c.5497-13_5497-10del	XP_006718906.1:n.5497-13_5497-10del
XM_006718845.1:c.1453-13_1453-10del	XP_006718908.1:n.1453-13_1453-10del
XM_011542840.1:c.5497-13_5497-10del	XP_011541142.1:n.5497-13_5497-10del
XM_011542841.1:c.5497-13_5497-10del	XP_011541143.1:n.5497-13_5497-10del
XM_011542842.1:c.5332-13_5332-10del	XP_011541144.1:n.5332-13_5332-10del
XM_011542843.1:c.5497-13_5497-10del	XP_011541145.1:n.5497-13_5497-10del
XM_011542844.1:c.4453-13_4453-10del	XP_011541146.1:n.4453-13_4453-10del
XM_011542845.1:c.4189-13_4189-10del	XP_011541147.1:n.4189-13_4189-10del
XM_011542847.1:c.568-13_568-10del	XP_011541149.1:n.568-13_568-10del
NM_001351834.1:c.5497-13_5497-10del	NP_001338763.1:n.5497-13_5497-10del
XM_005271562.5:c.5497-13_5497-10del	XP_005271619.2:n.5497-13_5497-10del
XM_006718843.4:c.5497-13_5497-10del	XP_006718906.1:n.5497-13_5497-10del
XM_006718845.2:c.1453-13_1453-10del	XP_006718908.1:n.1453-13_1453-10del
XM_011542840.3:c.5497-13_5497-10del	XP_011541142.1:n.5497-13_5497-10del
XM_011542842.3:c.5332-13_5332-10del	XP_011541144.1:n.5332-13_5332-10del
XM_011542843.2:c.5497-13_5497-10del	XP_011541145.1:n.5497-13_5497-10del
XM_011542844.3:c.4453-13_4453-10del	XP_011541146.1:n.4453-13_4453-10del
XM_011542845.2:c.4189-13_4189-10del	XP_011541147.1:n.4189-13_4189-10del
XM_017017789.2:c.5497-13_5497-10del	XP_016873278.1:n.5497-13_5497-10del
XM_017017790.2:c.5497-13_5497-10del	XP_016873279.1:n.5497-13_5497-10del
XM_017017791.1:c.5497-13_5497-10del	XP_016873280.1:n.5497-13_5497-10del
XR_002957150.1:n.6097-13_6097-10del
NM_001351834.2:c.5497-13_5497-10del	NP_001338763.1:n.5497-13_5497-10del
NM_000051.4:c.5497-13_5497-10del MANE Select	NP_000042.3:n.5497-13_5497-10del