Canonical Allele Identifier: CA1998795390

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287600_108287601delinsAT , CM000673.2:g.108287600_108287601delinsAT	GRCh38
NC_000011.9:g.108158327_108158328delinsAT , CM000673.1:g.108158327_108158328delinsAT	GRCh37
NC_000011.8:g.107663537_107663538delinsAT	NCBI36
NG_009830.1:g.69769_69770delinsAT , LRG_135:g.69769_69770delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3994_3995delinsAT	ENSP00000388058.2:p.Ile1332=
ENST00000713593.1:c.*3465_*3466delinsAT	ENSP00000518889.1:n.*3465_*3466delinsAT
ENST00000278616.9:c.3994_3995delinsAT	ENSP00000278616.4:p.Ile1332=
ENST00000533733.6:n.1257_1258delinsAT
ENST00000683174.1:n.4144_4145delinsAT
ENST00000527805.6:c.3994_3995delinsAT	ENSP00000435747.2:p.Ile1332=
ENST00000675595.1:c.3829_3830delinsAT	ENSP00000502563.1:p.Ile1277=
ENST00000675843.1:c.3994_3995delinsAT MANE Select	ENSP00000501606.1:p.Ile1332=
ENST00000278616.8:c.3994_3995delinsAT	ENSP00000278616.4:p.Ile1332=
ENST00000452508.6:c.3994_3995delinsAT	ENSP00000388058.2:p.Ile1332=
ENST00000524792.5:n.209_210delinsAT
ENST00000527805.5:c.3994_3995delinsAT	ENSP00000435747.1:p.Ile1332=
ENST00000531525.2:c.1_2delinsAT	ENSP00000434327.2:p.Ile1=
ENST00000533733.5:n.423_424delinsAT
NM_000051.3:c.3994_3995delinsAT , LRG_135t1:c.3994_3995delinsAT	NP_000042.3:p.Ile1332=
XM_005271561.3:c.3994_3995delinsAT	XP_005271618.2:p.Ile1332=
XM_005271562.3:c.3994_3995delinsAT	XP_005271619.2:p.Ile1332=
XM_006718843.2:c.3994_3995delinsAT	XP_006718906.1:p.Ile1332=
XM_006718845.1:c.-51_-50delinsAT	XP_006718908.1:n.-51_-50delinsAT
XM_011542840.1:c.3994_3995delinsAT	XP_011541142.1:p.Ile1332=
XM_011542841.1:c.3994_3995delinsAT	XP_011541143.1:p.Ile1332=
XM_011542842.1:c.3829_3830delinsAT	XP_011541144.1:p.Ile1277=
XM_011542843.1:c.3994_3995delinsAT	XP_011541145.1:p.Ile1332=
XM_011542844.1:c.2950_2951delinsAT	XP_011541146.1:p.Ile984=
XM_011542845.1:c.2686_2687delinsAT	XP_011541147.1:p.Ile896=
XM_011542846.1:c.3994_3995delinsAT	XP_011541148.1:p.Ile1332=
NM_001351834.1:c.3994_3995delinsAT	NP_001338763.1:p.Ile1332=
XM_005271562.5:c.3994_3995delinsAT	XP_005271619.2:p.Ile1332=
XM_006718843.4:c.3994_3995delinsAT	XP_006718906.1:p.Ile1332=
XM_006718845.2:c.-51_-50delinsAT	XP_006718908.1:n.-51_-50delinsAT
XM_011542840.3:c.3994_3995delinsAT	XP_011541142.1:p.Ile1332=
XM_011542842.3:c.3829_3830delinsAT	XP_011541144.1:p.Ile1277=
XM_011542843.2:c.3994_3995delinsAT	XP_011541145.1:p.Ile1332=
XM_011542844.3:c.2950_2951delinsAT	XP_011541146.1:p.Ile984=
XM_011542845.2:c.2686_2687delinsAT	XP_011541147.1:p.Ile896=
XM_017017789.2:c.3994_3995delinsAT	XP_016873278.1:p.Ile1332=
XM_017017790.2:c.3994_3995delinsAT	XP_016873279.1:p.Ile1332=
XM_017017791.1:c.3994_3995delinsAT	XP_016873280.1:p.Ile1332=
XM_017017792.2:c.3994_3995delinsAT	XP_016873281.1:p.Ile1332=
XR_002957150.1:n.4727_4728delinsAT
NM_001351834.2:c.3994_3995delinsAT	NP_001338763.1:p.Ile1332=
NM_000051.4:c.3994_3995delinsAT MANE Select	NP_000042.3:p.Ile1332=