Canonical Allele Identifier: CA1998796425

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299731_108299740delinsTTGGGAGAAG , CM000673.2:g.108299731_108299740delinsTTGGGAGAAG	GRCh38
NC_000011.9:g.108170458_108170467delinsTTGGGAGAAG , CM000673.1:g.108170458_108170467delinsTTGGGAGAAG	GRCh37
NC_000011.8:g.107675668_107675677delinsTTGGGAGAAG	NCBI36
NG_009830.1:g.81900_81909delinsTTGGGAGAAG , LRG_135:g.81900_81909delinsTTGGGAGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5023_5032delinsTTGGGAGAAG	ENSP00000388058.2:p.Leu1675=
ENST00000713593.1:c.*4494_*4503delinsTTGGGAGAAG	ENSP00000518889.1:n.*4494_*4503delinsTTGG...
ENST00000278616.9:c.5023_5032delinsTTGGGAGAAG	ENSP00000278616.4:p.Leu1675=
ENST00000683174.1:n.6507_6516delinsTTGGGAGAAG
ENST00000683524.1:n.247_256delinsTTGGGAGAAG
ENST00000684152.1:n.737_746delinsTTGGGAGAAG
ENST00000527805.6:c.*87_*96delinsTTGGGAGAAG	ENSP00000435747.2:n.*87_*96delinsTTGGGAGA...
ENST00000675595.1:c.*87_*96delinsTTGGGAGAAG	ENSP00000502563.1:n.*87_*96delinsTTGGGAGA...
ENST00000675843.1:c.5023_5032delinsTTGGGAGAAG MANE Select	ENSP00000501606.1:p.Leu1675=
ENST00000278616.8:c.5023_5032delinsTTGGGAGAAG	ENSP00000278616.4:p.Leu1675=
ENST00000452508.6:c.5023_5032delinsTTGGGAGAAG	ENSP00000388058.2:p.Leu1675=
ENST00000524792.5:n.1238_1247delinsTTGGGAGAAG
ENST00000533690.5:n.427_436delinsTTGGGAGAAG
ENST00000534625.1:n.252_261delinsTTGGGAGAAG
NM_000051.3:c.5023_5032delinsTTGGGAGAAG , LRG_135t1:c.5023_5032delinsTTGGGAGAAG	NP_000042.3:p.Leu1675=
XM_005271561.3:c.5023_5032delinsTTGGGAGAAG	XP_005271618.2:p.Leu1675=
XM_005271562.3:c.5023_5032delinsTTGGGAGAAG	XP_005271619.2:p.Leu1675=
XM_006718843.2:c.5023_5032delinsTTGGGAGAAG	XP_006718906.1:p.Leu1675=
XM_006718845.1:c.979_988delinsTTGGGAGAAG	XP_006718908.1:p.Leu327=
XM_011542840.1:c.5023_5032delinsTTGGGAGAAG	XP_011541142.1:p.Leu1675=
XM_011542841.1:c.5023_5032delinsTTGGGAGAAG	XP_011541143.1:p.Leu1675=
XM_011542842.1:c.4858_4867delinsTTGGGAGAAG	XP_011541144.1:p.Leu1620=
XM_011542843.1:c.5023_5032delinsTTGGGAGAAG	XP_011541145.1:p.Leu1675=
XM_011542844.1:c.3979_3988delinsTTGGGAGAAG	XP_011541146.1:p.Leu1327=
XM_011542845.1:c.3715_3724delinsTTGGGAGAAG	XP_011541147.1:p.Leu1239=
XM_011542846.1:c.5023_5032delinsTTGGGAGAAG	XP_011541148.1:p.Leu1675=
XM_011542847.1:c.94_103delinsTTGGGAGAAG	XP_011541149.1:p.Leu32=
NM_001351834.1:c.5023_5032delinsTTGGGAGAAG	NP_001338763.1:p.Leu1675=
XM_005271562.5:c.5023_5032delinsTTGGGAGAAG	XP_005271619.2:p.Leu1675=
XM_006718843.4:c.5023_5032delinsTTGGGAGAAG	XP_006718906.1:p.Leu1675=
XM_006718845.2:c.979_988delinsTTGGGAGAAG	XP_006718908.1:p.Leu327=
XM_011542840.3:c.5023_5032delinsTTGGGAGAAG	XP_011541142.1:p.Leu1675=
XM_011542842.3:c.4858_4867delinsTTGGGAGAAG	XP_011541144.1:p.Leu1620=
XM_011542843.2:c.5023_5032delinsTTGGGAGAAG	XP_011541145.1:p.Leu1675=
XM_011542844.3:c.3979_3988delinsTTGGGAGAAG	XP_011541146.1:p.Leu1327=
XM_011542845.2:c.3715_3724delinsTTGGGAGAAG	XP_011541147.1:p.Leu1239=
XM_017017789.2:c.5023_5032delinsTTGGGAGAAG	XP_016873278.1:p.Leu1675=
XM_017017790.2:c.5023_5032delinsTTGGGAGAAG	XP_016873279.1:p.Leu1675=
XM_017017791.1:c.5023_5032delinsTTGGGAGAAG	XP_016873280.1:p.Leu1675=
XM_017017792.2:c.5023_5032delinsTTGGGAGAAG	XP_016873281.1:p.Leu1675=
XR_002957150.1:n.5623_5632delinsTTGGGAGAAG
NM_001351834.2:c.5023_5032delinsTTGGGAGAAG	NP_001338763.1:p.Leu1675=
NM_000051.4:c.5023_5032delinsTTGGGAGAAG MANE Select	NP_000042.3:p.Leu1675=