Canonical Allele Identifier: CA1998803475

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307571_108307575delinsCAGTG , CM000673.2:g.108307571_108307575delinsCAGTG	GRCh38
NC_000011.9:g.108178298_108178302delinsCAGTG , CM000673.1:g.108178298_108178302delinsCAGTG	GRCh37
NC_000011.8:g.107683508_107683512delinsCAGTG	NCBI36
NG_009830.1:g.89740_89744delinsCAGTG , LRG_135:g.89740_89744delinsCAGTG
NG_054724.1:g.167258_167262delinsCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-326_5675-322delinsCAGTG	ENSP00000388058.2:n.5675-326_5675-322delinsCAGTG
ENST00000713593.1:c.*5146-326_*5146-322delinsCAGTG	ENSP00000518889.1:n.*5146-326_*5146-322delinsCAGTG
ENST00000278616.9:c.5675-326_5675-322delinsCAGTG	ENSP00000278616.4:n.5675-326_5675-322delinsCAGTG
ENST00000682286.1:n.431+89_431+93delinsCAGTG
ENST00000683174.1:n.7159-326_7159-322delinsCAGTG
ENST00000683524.1:n.899-326_899-322delinsCAGTG
ENST00000684152.1:n.1389-326_1389-322delinsCAGTG
ENST00000527805.6:c.*739-326_*739-322delinsCAGTG	ENSP00000435747.2:n.*739-326_*739-322delinsCAGTG
ENST00000675595.1:c.*739-326_*739-322delinsCAGTG	ENSP00000502563.1:n.*739-326_*739-322delinsCAGTG
ENST00000675843.1:c.5675-326_5675-322delinsCAGTG MANE Select	ENSP00000501606.1:n.5675-326_5675-322delinsCAGTG
ENST00000278616.8:c.5675-326_5675-322delinsCAGTG	ENSP00000278616.4:n.5675-326_5675-322delinsCAGTG
ENST00000452508.6:c.5675-326_5675-322delinsCAGTG	ENSP00000388058.2:n.5675-326_5675-322delinsCAGTG
ENST00000524792.5:n.1890-326_1890-322delinsCAGTG
ENST00000529588.5:c.187-2589_187-2585delinsCAGTG
ENST00000533690.5:n.1079-326_1079-322delinsCAGTG
NM_000051.3:c.5675-326_5675-322delinsCAGTG , LRG_135t1:c.5675-326_5675-322delinsCAGTG	NP_000042.3:n.5675-326_5675-322delinsCAGTG
XM_005271561.3:c.5675-326_5675-322delinsCAGTG	XP_005271618.2:n.5675-326_5675-322delinsCAGTG
XM_005271562.3:c.5675-326_5675-322delinsCAGTG	XP_005271619.2:n.5675-326_5675-322delinsCAGTG
XM_006718843.2:c.5675-326_5675-322delinsCAGTG	XP_006718906.1:n.5675-326_5675-322delinsCAGTG
XM_006718845.1:c.1631-326_1631-322delinsCAGTG	XP_006718908.1:n.1631-326_1631-322delinsCAGTG
XM_011542840.1:c.5675-326_5675-322delinsCAGTG	XP_011541142.1:n.5675-326_5675-322delinsCAGTG
XM_011542841.1:c.5675-326_5675-322delinsCAGTG	XP_011541143.1:n.5675-326_5675-322delinsCAGTG
XM_011542842.1:c.5510-326_5510-322delinsCAGTG	XP_011541144.1:n.5510-326_5510-322delinsCAGTG
XM_011542843.1:c.5675-326_5675-322delinsCAGTG	XP_011541145.1:n.5675-326_5675-322delinsCAGTG
XM_011542844.1:c.4631-326_4631-322delinsCAGTG	XP_011541146.1:n.4631-326_4631-322delinsCAGTG
XM_011542845.1:c.4367-326_4367-322delinsCAGTG	XP_011541147.1:n.4367-326_4367-322delinsCAGTG
XM_011542847.1:c.746-326_746-322delinsCAGTG	XP_011541149.1:n.746-326_746-322delinsCAGTG
NM_001351834.1:c.5675-326_5675-322delinsCAGTG	NP_001338763.1:n.5675-326_5675-322delinsCAGTG
XM_005271562.5:c.5675-326_5675-322delinsCAGTG	XP_005271619.2:n.5675-326_5675-322delinsCAGTG
XM_006718843.4:c.5675-326_5675-322delinsCAGTG	XP_006718906.1:n.5675-326_5675-322delinsCAGTG
XM_006718845.2:c.1631-326_1631-322delinsCAGTG	XP_006718908.1:n.1631-326_1631-322delinsCAGTG
XM_011542840.3:c.5675-326_5675-322delinsCAGTG	XP_011541142.1:n.5675-326_5675-322delinsCAGTG
XM_011542842.3:c.5510-326_5510-322delinsCAGTG	XP_011541144.1:n.5510-326_5510-322delinsCAGTG
XM_011542843.2:c.5675-326_5675-322delinsCAGTG	XP_011541145.1:n.5675-326_5675-322delinsCAGTG
XM_011542844.3:c.4631-326_4631-322delinsCAGTG	XP_011541146.1:n.4631-326_4631-322delinsCAGTG
XM_011542845.2:c.4367-326_4367-322delinsCAGTG	XP_011541147.1:n.4367-326_4367-322delinsCAGTG
XM_017017789.2:c.5675-326_5675-322delinsCAGTG	XP_016873278.1:n.5675-326_5675-322delinsCAGTG
XM_017017790.2:c.5675-326_5675-322delinsCAGTG	XP_016873279.1:n.5675-326_5675-322delinsCAGTG
XM_017017791.1:c.5675-326_5675-322delinsCAGTG	XP_016873280.1:n.5675-326_5675-322delinsCAGTG
XR_002957150.1:n.6275-326_6275-322delinsCAGTG
NM_001351834.2:c.5675-326_5675-322delinsCAGTG	NP_001338763.1:n.5675-326_5675-322delinsCAGTG
NM_000051.4:c.5675-326_5675-322delinsCAGTG MANE Select	NP_000042.3:n.5675-326_5675-322delinsCAGTG