Canonical Allele Identifier: CA1998803539

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307665_108307668delinsGTCC , CM000673.2:g.108307665_108307668delinsGTCC	GRCh38
NC_000011.9:g.108178392_108178395delinsGTCC , CM000673.1:g.108178392_108178395delinsGTCC	GRCh37
NC_000011.8:g.107683602_107683605delinsGTCC	NCBI36
NG_009830.1:g.89834_89837delinsGTCC , LRG_135:g.89834_89837delinsGTCC
NG_054724.1:g.167165_167168delinsGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-232_5675-229delinsGTCC	ENSP00000388058.2:n.5675-232_5675-229delinsGTCC
ENST00000713593.1:c.*5146-232_*5146-229delinsGTCC	ENSP00000518889.1:n.*5146-232_*5146-229delinsGTCC
ENST00000278616.9:c.5675-232_5675-229delinsGTCC	ENSP00000278616.4:n.5675-232_5675-229delinsGTCC
ENST00000682286.1:n.431+183_431+186delinsGTCC
ENST00000683174.1:n.7159-232_7159-229delinsGTCC
ENST00000683524.1:n.899-232_899-229delinsGTCC
ENST00000684152.1:n.1389-232_1389-229delinsGTCC
ENST00000527805.6:c.*739-232_*739-229delinsGTCC	ENSP00000435747.2:n.*739-232_*739-229delinsGTCC
ENST00000675595.1:c.*739-232_*739-229delinsGTCC	ENSP00000502563.1:n.*739-232_*739-229delinsGTCC
ENST00000675843.1:c.5675-232_5675-229delinsGTCC MANE Select	ENSP00000501606.1:n.5675-232_5675-229delinsGTCC
ENST00000278616.8:c.5675-232_5675-229delinsGTCC	ENSP00000278616.4:n.5675-232_5675-229delinsGTCC
ENST00000452508.6:c.5675-232_5675-229delinsGTCC	ENSP00000388058.2:n.5675-232_5675-229delinsGTCC
ENST00000524792.5:n.1890-232_1890-229delinsGTCC
ENST00000529588.5:c.187-2495_187-2492delinsGTCC
ENST00000533690.5:n.1079-232_1079-229delinsGTCC
NM_000051.3:c.5675-232_5675-229delinsGTCC , LRG_135t1:c.5675-232_5675-229delinsGTCC	NP_000042.3:n.5675-232_5675-229delinsGTCC
XM_005271561.3:c.5675-232_5675-229delinsGTCC	XP_005271618.2:n.5675-232_5675-229delinsGTCC
XM_005271562.3:c.5675-232_5675-229delinsGTCC	XP_005271619.2:n.5675-232_5675-229delinsGTCC
XM_006718843.2:c.5675-232_5675-229delinsGTCC	XP_006718906.1:n.5675-232_5675-229delinsGTCC
XM_006718845.1:c.1631-232_1631-229delinsGTCC	XP_006718908.1:n.1631-232_1631-229delinsGTCC
XM_011542840.1:c.5675-232_5675-229delinsGTCC	XP_011541142.1:n.5675-232_5675-229delinsGTCC
XM_011542841.1:c.5675-232_5675-229delinsGTCC	XP_011541143.1:n.5675-232_5675-229delinsGTCC
XM_011542842.1:c.5510-232_5510-229delinsGTCC	XP_011541144.1:n.5510-232_5510-229delinsGTCC
XM_011542843.1:c.5675-232_5675-229delinsGTCC	XP_011541145.1:n.5675-232_5675-229delinsGTCC
XM_011542844.1:c.4631-232_4631-229delinsGTCC	XP_011541146.1:n.4631-232_4631-229delinsGTCC
XM_011542845.1:c.4367-232_4367-229delinsGTCC	XP_011541147.1:n.4367-232_4367-229delinsGTCC
XM_011542847.1:c.746-232_746-229delinsGTCC	XP_011541149.1:n.746-232_746-229delinsGTCC
NM_001351834.1:c.5675-232_5675-229delinsGTCC	NP_001338763.1:n.5675-232_5675-229delinsGTCC
XM_005271562.5:c.5675-232_5675-229delinsGTCC	XP_005271619.2:n.5675-232_5675-229delinsGTCC
XM_006718843.4:c.5675-232_5675-229delinsGTCC	XP_006718906.1:n.5675-232_5675-229delinsGTCC
XM_006718845.2:c.1631-232_1631-229delinsGTCC	XP_006718908.1:n.1631-232_1631-229delinsGTCC
XM_011542840.3:c.5675-232_5675-229delinsGTCC	XP_011541142.1:n.5675-232_5675-229delinsGTCC
XM_011542842.3:c.5510-232_5510-229delinsGTCC	XP_011541144.1:n.5510-232_5510-229delinsGTCC
XM_011542843.2:c.5675-232_5675-229delinsGTCC	XP_011541145.1:n.5675-232_5675-229delinsGTCC
XM_011542844.3:c.4631-232_4631-229delinsGTCC	XP_011541146.1:n.4631-232_4631-229delinsGTCC
XM_011542845.2:c.4367-232_4367-229delinsGTCC	XP_011541147.1:n.4367-232_4367-229delinsGTCC
XM_017017789.2:c.5675-232_5675-229delinsGTCC	XP_016873278.1:n.5675-232_5675-229delinsGTCC
XM_017017790.2:c.5675-232_5675-229delinsGTCC	XP_016873279.1:n.5675-232_5675-229delinsGTCC
XM_017017791.1:c.5675-232_5675-229delinsGTCC	XP_016873280.1:n.5675-232_5675-229delinsGTCC
XR_002957150.1:n.6275-232_6275-229delinsGTCC
NM_001351834.2:c.5675-232_5675-229delinsGTCC	NP_001338763.1:n.5675-232_5675-229delinsGTCC
NM_000051.4:c.5675-232_5675-229delinsGTCC MANE Select	NP_000042.3:n.5675-232_5675-229delinsGTCC