Canonical Allele Identifier: CA913188473

Gene: ATM

Linked Data

• ClinVar Variation Id: 921282
• ClinVar RCV Id: RCV001180623
• dbSNP Id: rs2083812557

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307886_108307887del , CM000673.2:g.108307886_108307887del	GRCh38
NC_000011.9:g.108178613_108178614del , CM000673.1:g.108178613_108178614del	GRCh37
NC_000011.8:g.107683823_107683824del	NCBI36
NG_009830.1:g.90055_90056del , LRG_135:g.90055_90056del
NG_054724.1:g.166949_166950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-11_5675-10del	ENSP00000388058.2:n.5675-11_5675-10del
ENST00000713593.1:c.*5146-11_*5146-10del	ENSP00000518889.1:n.*5146-11_*5146-10del
ENST00000278616.9:c.5675-11_5675-10del	ENSP00000278616.4:n.5675-11_5675-10del
ENST00000525056.2:n.83_84del
ENST00000682286.1:n.432-11_432-10del
ENST00000682302.1:n.82_83del
ENST00000683174.1:n.7159-11_7159-10del
ENST00000683524.1:n.899-11_899-10del
ENST00000684152.1:n.1389-11_1389-10del
ENST00000527805.6:c.*739-11_*739-10del	ENSP00000435747.2:n.*739-11_*739-10del
ENST00000675595.1:c.*739-11_*739-10del	ENSP00000502563.1:n.*739-11_*739-10del
ENST00000675843.1:c.5675-11_5675-10del MANE Select	ENSP00000501606.1:n.5675-11_5675-10del
ENST00000278616.8:c.5675-11_5675-10del	ENSP00000278616.4:n.5675-11_5675-10del
ENST00000452508.6:c.5675-11_5675-10del	ENSP00000388058.2:n.5675-11_5675-10del
ENST00000524792.5:n.1890-11_1890-10del
ENST00000529588.5:c.187-2274_187-2273del
ENST00000533690.5:n.1079-11_1079-10del
NM_000051.3:c.5675-11_5675-10del , LRG_135t1:c.5675-11_5675-10del	NP_000042.3:n.5675-11_5675-10del
XM_005271561.3:c.5675-11_5675-10del	XP_005271618.2:n.5675-11_5675-10del
XM_005271562.3:c.5675-11_5675-10del	XP_005271619.2:n.5675-11_5675-10del
XM_006718843.2:c.5675-11_5675-10del	XP_006718906.1:n.5675-11_5675-10del
XM_006718845.1:c.1631-11_1631-10del	XP_006718908.1:n.1631-11_1631-10del
XM_011542840.1:c.5675-11_5675-10del	XP_011541142.1:n.5675-11_5675-10del
XM_011542841.1:c.5675-11_5675-10del	XP_011541143.1:n.5675-11_5675-10del
XM_011542842.1:c.5510-11_5510-10del	XP_011541144.1:n.5510-11_5510-10del
XM_011542843.1:c.5675-11_5675-10del	XP_011541145.1:n.5675-11_5675-10del
XM_011542844.1:c.4631-11_4631-10del	XP_011541146.1:n.4631-11_4631-10del
XM_011542845.1:c.4367-11_4367-10del	XP_011541147.1:n.4367-11_4367-10del
XM_011542847.1:c.746-11_746-10del	XP_011541149.1:n.746-11_746-10del
NM_001351834.1:c.5675-11_5675-10del	NP_001338763.1:n.5675-11_5675-10del
XM_005271562.5:c.5675-11_5675-10del	XP_005271619.2:n.5675-11_5675-10del
XM_006718843.4:c.5675-11_5675-10del	XP_006718906.1:n.5675-11_5675-10del
XM_006718845.2:c.1631-11_1631-10del	XP_006718908.1:n.1631-11_1631-10del
XM_011542840.3:c.5675-11_5675-10del	XP_011541142.1:n.5675-11_5675-10del
XM_011542842.3:c.5510-11_5510-10del	XP_011541144.1:n.5510-11_5510-10del
XM_011542843.2:c.5675-11_5675-10del	XP_011541145.1:n.5675-11_5675-10del
XM_011542844.3:c.4631-11_4631-10del	XP_011541146.1:n.4631-11_4631-10del
XM_011542845.2:c.4367-11_4367-10del	XP_011541147.1:n.4367-11_4367-10del
XM_017017789.2:c.5675-11_5675-10del	XP_016873278.1:n.5675-11_5675-10del
XM_017017790.2:c.5675-11_5675-10del	XP_016873279.1:n.5675-11_5675-10del
XM_017017791.1:c.5675-11_5675-10del	XP_016873280.1:n.5675-11_5675-10del
XR_002957150.1:n.6275-11_6275-10del
NM_001351834.2:c.5675-11_5675-10del	NP_001338763.1:n.5675-11_5675-10del
NM_000051.4:c.5675-11_5675-10del MANE Select	NP_000042.3:n.5675-11_5675-10del