Canonical Allele Identifier: CA1998799867

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302928_108302929delinsAG , CM000673.2:g.108302928_108302929delinsAG	GRCh38
NC_000011.9:g.108173655_108173656delinsAG , CM000673.1:g.108173655_108173656delinsAG	GRCh37
NC_000011.8:g.107678865_107678866delinsAG	NCBI36
NG_009830.1:g.85097_85098delinsAG , LRG_135:g.85097_85098delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5395_5396delinsAG	ENSP00000388058.2:p.Ser1799=
ENST00000713593.1:c.*4866_*4867delinsAG	ENSP00000518889.1:n.*4866_*4867delinsAG
ENST00000278616.9:c.5395_5396delinsAG	ENSP00000278616.4:p.Ser1799=
ENST00000683174.1:n.6879_6880delinsAG
ENST00000683524.1:n.619_620delinsAG
ENST00000684152.1:n.1109_1110delinsAG
ENST00000527805.6:c.*459_*460delinsAG	ENSP00000435747.2:n.*459_*460delinsAG
ENST00000675595.1:c.*459_*460delinsAG	ENSP00000502563.1:n.*459_*460delinsAG
ENST00000675843.1:c.5395_5396delinsAG MANE Select	ENSP00000501606.1:p.Ser1799=
ENST00000278616.8:c.5395_5396delinsAG	ENSP00000278616.4:p.Ser1799=
ENST00000452508.6:c.5395_5396delinsAG	ENSP00000388058.2:p.Ser1799=
ENST00000524792.5:n.1610_1611delinsAG
ENST00000533690.5:n.799_800delinsAG
ENST00000534625.1:n.624_625delinsAG
NM_000051.3:c.5395_5396delinsAG , LRG_135t1:c.5395_5396delinsAG	NP_000042.3:p.Ser1799=
XM_005271561.3:c.5395_5396delinsAG	XP_005271618.2:p.Ser1799=
XM_005271562.3:c.5395_5396delinsAG	XP_005271619.2:p.Ser1799=
XM_006718843.2:c.5395_5396delinsAG	XP_006718906.1:p.Ser1799=
XM_006718845.1:c.1351_1352delinsAG	XP_006718908.1:p.Ser451=
XM_011542840.1:c.5395_5396delinsAG	XP_011541142.1:p.Ser1799=
XM_011542841.1:c.5395_5396delinsAG	XP_011541143.1:p.Ser1799=
XM_011542842.1:c.5230_5231delinsAG	XP_011541144.1:p.Ser1744=
XM_011542843.1:c.5395_5396delinsAG	XP_011541145.1:p.Ser1799=
XM_011542844.1:c.4351_4352delinsAG	XP_011541146.1:p.Ser1451=
XM_011542845.1:c.4087_4088delinsAG	XP_011541147.1:p.Ser1363=
XM_011542846.1:c.*53_*54delinsAG	XP_011541148.1:n.*53_*54delinsAG
XM_011542847.1:c.466_467delinsAG	XP_011541149.1:p.Ser156=
NM_001351834.1:c.5395_5396delinsAG	NP_001338763.1:p.Ser1799=
XM_005271562.5:c.5395_5396delinsAG	XP_005271619.2:p.Ser1799=
XM_006718843.4:c.5395_5396delinsAG	XP_006718906.1:p.Ser1799=
XM_006718845.2:c.1351_1352delinsAG	XP_006718908.1:p.Ser451=
XM_011542840.3:c.5395_5396delinsAG	XP_011541142.1:p.Ser1799=
XM_011542842.3:c.5230_5231delinsAG	XP_011541144.1:p.Ser1744=
XM_011542843.2:c.5395_5396delinsAG	XP_011541145.1:p.Ser1799=
XM_011542844.3:c.4351_4352delinsAG	XP_011541146.1:p.Ser1451=
XM_011542845.2:c.4087_4088delinsAG	XP_011541147.1:p.Ser1363=
XM_017017789.2:c.5395_5396delinsAG	XP_016873278.1:p.Ser1799=
XM_017017790.2:c.5395_5396delinsAG	XP_016873279.1:p.Ser1799=
XM_017017791.1:c.5395_5396delinsAG	XP_016873280.1:p.Ser1799=
XM_017017792.2:c.*76_*77delinsAG	XP_016873281.1:n.*76_*77delinsAG
XR_002957150.1:n.5995_5996delinsAG
NM_001351834.2:c.5395_5396delinsAG	NP_001338763.1:p.Ser1799=
NM_000051.4:c.5395_5396delinsAG MANE Select	NP_000042.3:p.Ser1799=