Canonical Allele Identifier: CA1998801261

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304723_108304724delinsAT , CM000673.2:g.108304723_108304724delinsAT	GRCh38
NC_000011.9:g.108175450_108175451delinsAT , CM000673.1:g.108175450_108175451delinsAT	GRCh37
NC_000011.8:g.107680660_107680661delinsAT	NCBI36
NG_009830.1:g.86892_86893delinsAT , LRG_135:g.86892_86893delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5545_5546delinsAT	ENSP00000388058.2:p.Ile1849=
ENST00000713593.1:c.*5016_*5017delinsAT	ENSP00000518889.1:n.*5016_*5017delinsAT
ENST00000278616.9:c.5545_5546delinsAT	ENSP00000278616.4:p.Ile1849=
ENST00000683174.1:n.7029_7030delinsAT
ENST00000683524.1:n.769_770delinsAT
ENST00000684152.1:n.1259_1260delinsAT
ENST00000527805.6:c.*609_*610delinsAT	ENSP00000435747.2:n.*609_*610delinsAT
ENST00000675595.1:c.*609_*610delinsAT	ENSP00000502563.1:n.*609_*610delinsAT
ENST00000675843.1:c.5545_5546delinsAT MANE Select	ENSP00000501606.1:p.Ile1849=
ENST00000278616.8:c.5545_5546delinsAT	ENSP00000278616.4:p.Ile1849=
ENST00000452508.6:c.5545_5546delinsAT	ENSP00000388058.2:p.Ile1849=
ENST00000524792.5:n.1760_1761delinsAT
ENST00000529588.5:c.57_58delinsAT
ENST00000533690.5:n.949_950delinsAT
NM_000051.3:c.5545_5546delinsAT , LRG_135t1:c.5545_5546delinsAT	NP_000042.3:p.Ile1849=
XM_005271561.3:c.5545_5546delinsAT	XP_005271618.2:p.Ile1849=
XM_005271562.3:c.5545_5546delinsAT	XP_005271619.2:p.Ile1849=
XM_006718843.2:c.5545_5546delinsAT	XP_006718906.1:p.Ile1849=
XM_006718845.1:c.1501_1502delinsAT	XP_006718908.1:p.Ile501=
XM_011542840.1:c.5545_5546delinsAT	XP_011541142.1:p.Ile1849=
XM_011542841.1:c.5545_5546delinsAT	XP_011541143.1:p.Ile1849=
XM_011542842.1:c.5380_5381delinsAT	XP_011541144.1:p.Ile1794=
XM_011542843.1:c.5545_5546delinsAT	XP_011541145.1:p.Ile1849=
XM_011542844.1:c.4501_4502delinsAT	XP_011541146.1:p.Ile1501=
XM_011542845.1:c.4237_4238delinsAT	XP_011541147.1:p.Ile1413=
XM_011542847.1:c.616_617delinsAT	XP_011541149.1:p.Ile206=
NM_001351834.1:c.5545_5546delinsAT	NP_001338763.1:p.Ile1849=
XM_005271562.5:c.5545_5546delinsAT	XP_005271619.2:p.Ile1849=
XM_006718843.4:c.5545_5546delinsAT	XP_006718906.1:p.Ile1849=
XM_006718845.2:c.1501_1502delinsAT	XP_006718908.1:p.Ile501=
XM_011542840.3:c.5545_5546delinsAT	XP_011541142.1:p.Ile1849=
XM_011542842.3:c.5380_5381delinsAT	XP_011541144.1:p.Ile1794=
XM_011542843.2:c.5545_5546delinsAT	XP_011541145.1:p.Ile1849=
XM_011542844.3:c.4501_4502delinsAT	XP_011541146.1:p.Ile1501=
XM_011542845.2:c.4237_4238delinsAT	XP_011541147.1:p.Ile1413=
XM_017017789.2:c.5545_5546delinsAT	XP_016873278.1:p.Ile1849=
XM_017017790.2:c.5545_5546delinsAT	XP_016873279.1:p.Ile1849=
XM_017017791.1:c.5545_5546delinsAT	XP_016873280.1:p.Ile1849=
XR_002957150.1:n.6145_6146delinsAT
NM_001351834.2:c.5545_5546delinsAT	NP_001338763.1:p.Ile1849=
NM_000051.4:c.5545_5546delinsAT MANE Select	NP_000042.3:p.Ile1849=