Canonical Allele Identifier: CA941943037

Gene: ATM

Linked Data

• dbSNP Id: rs2082330830
• gnomAD v3: 11-108283327-G-GAAACTTAATGT
• gnomAD v4: 11-108283327-G-GAAACTTAATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108283331_108283341dup , CM000673.2:g.108283331_108283341dup	GRCh38
NC_000011.9:g.108154058_108154068dup , CM000673.1:g.108154058_108154068dup	GRCh37
NC_000011.8:g.107659268_107659278dup	NCBI36
NG_009830.1:g.65500_65510dup , LRG_135:g.65500_65510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3746+452_3746+462dup	ENSP00000388058.2:n.3746+452_3746+462dup
ENST00000713593.1:c.*3217+452_*3217+462dup	ENSP00000518889.1:n.*3217+452_*3217+462dup
ENST00000278616.9:c.3746+452_3746+462dup	ENSP00000278616.4:n.3746+452_3746+462dup
ENST00000682289.1:n.93+452_93+462dup
ENST00000683174.1:n.3896+452_3896+462dup
ENST00000527805.6:c.3746+452_3746+462dup	ENSP00000435747.2:n.3746+452_3746+462dup
ENST00000675595.1:c.3581+452_3581+462dup	ENSP00000502563.1:n.3581+452_3581+462dup
ENST00000675843.1:c.3746+452_3746+462dup MANE Select	ENSP00000501606.1:n.3746+452_3746+462dup
ENST00000278616.8:c.3746+452_3746+462dup	ENSP00000278616.4:n.3746+452_3746+462dup
ENST00000452508.6:c.3746+452_3746+462dup	ENSP00000388058.2:n.3746+452_3746+462dup
ENST00000527805.5:c.3746+452_3746+462dup	ENSP00000435747.1:n.3746+452_3746+462dup
NM_000051.3:c.3746+452_3746+462dup , LRG_135t1:c.3746+452_3746+462dup	NP_000042.3:n.3746+452_3746+462dup
XM_005271561.3:c.3746+452_3746+462dup	XP_005271618.2:n.3746+452_3746+462dup
XM_005271562.3:c.3746+452_3746+462dup	XP_005271619.2:n.3746+452_3746+462dup
XM_006718843.2:c.3746+452_3746+462dup	XP_006718906.1:n.3746+452_3746+462dup
XM_011542840.1:c.3746+452_3746+462dup	XP_011541142.1:n.3746+452_3746+462dup
XM_011542841.1:c.3746+452_3746+462dup	XP_011541143.1:n.3746+452_3746+462dup
XM_011542842.1:c.3581+452_3581+462dup	XP_011541144.1:n.3581+452_3581+462dup
XM_011542843.1:c.3746+452_3746+462dup	XP_011541145.1:n.3746+452_3746+462dup
XM_011542844.1:c.2702+452_2702+462dup	XP_011541146.1:n.2702+452_2702+462dup
XM_011542845.1:c.2438+452_2438+462dup	XP_011541147.1:n.2438+452_2438+462dup
XM_011542846.1:c.3746+452_3746+462dup	XP_011541148.1:n.3746+452_3746+462dup
NM_001351834.1:c.3746+452_3746+462dup	NP_001338763.1:n.3746+452_3746+462dup
XM_005271562.5:c.3746+452_3746+462dup	XP_005271619.2:n.3746+452_3746+462dup
XM_006718843.4:c.3746+452_3746+462dup	XP_006718906.1:n.3746+452_3746+462dup
XM_011542840.3:c.3746+452_3746+462dup	XP_011541142.1:n.3746+452_3746+462dup
XM_011542842.3:c.3581+452_3581+462dup	XP_011541144.1:n.3581+452_3581+462dup
XM_011542843.2:c.3746+452_3746+462dup	XP_011541145.1:n.3746+452_3746+462dup
XM_011542844.3:c.2702+452_2702+462dup	XP_011541146.1:n.2702+452_2702+462dup
XM_011542845.2:c.2438+452_2438+462dup	XP_011541147.1:n.2438+452_2438+462dup
XM_017017789.2:c.3746+452_3746+462dup	XP_016873278.1:n.3746+452_3746+462dup
XM_017017790.2:c.3746+452_3746+462dup	XP_016873279.1:n.3746+452_3746+462dup
XM_017017791.1:c.3746+452_3746+462dup	XP_016873280.1:n.3746+452_3746+462dup
XM_017017792.2:c.3746+452_3746+462dup	XP_016873281.1:n.3746+452_3746+462dup
XR_002957150.1:n.4479+452_4479+462dup
NM_001351834.2:c.3746+452_3746+462dup	NP_001338763.1:n.3746+452_3746+462dup
NM_000051.4:c.3746+452_3746+462dup MANE Select	NP_000042.3:n.3746+452_3746+462dup