Canonical Allele Identifier: CA1998800060

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302974_108302975delinsTG , CM000673.2:g.108302974_108302975delinsTG	GRCh38
NC_000011.9:g.108173701_108173702delinsTG , CM000673.1:g.108173701_108173702delinsTG	GRCh37
NC_000011.8:g.107678911_107678912delinsTG	NCBI36
NG_009830.1:g.85143_85144delinsTG , LRG_135:g.85143_85144delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5441_5442delinsTG	ENSP00000388058.2:p.Leu1814=
ENST00000713593.1:c.*4912_*4913delinsTG	ENSP00000518889.1:n.*4912_*4913delinsTG
ENST00000278616.9:c.5441_5442delinsTG	ENSP00000278616.4:p.Leu1814=
ENST00000683174.1:n.6925_6926delinsTG
ENST00000683524.1:n.665_666delinsTG
ENST00000684152.1:n.1155_1156delinsTG
ENST00000527805.6:c.*505_*506delinsTG	ENSP00000435747.2:n.*505_*506delinsTG
ENST00000675595.1:c.*505_*506delinsTG	ENSP00000502563.1:n.*505_*506delinsTG
ENST00000675843.1:c.5441_5442delinsTG MANE Select	ENSP00000501606.1:p.Leu1814=
ENST00000278616.8:c.5441_5442delinsTG	ENSP00000278616.4:p.Leu1814=
ENST00000452508.6:c.5441_5442delinsTG	ENSP00000388058.2:p.Leu1814=
ENST00000524792.5:n.1656_1657delinsTG
ENST00000533690.5:n.845_846delinsTG
ENST00000534625.1:n.670_671delinsTG
NM_000051.3:c.5441_5442delinsTG , LRG_135t1:c.5441_5442delinsTG	NP_000042.3:p.Leu1814=
XM_005271561.3:c.5441_5442delinsTG	XP_005271618.2:p.Leu1814=
XM_005271562.3:c.5441_5442delinsTG	XP_005271619.2:p.Leu1814=
XM_006718843.2:c.5441_5442delinsTG	XP_006718906.1:p.Leu1814=
XM_006718845.1:c.1397_1398delinsTG	XP_006718908.1:p.Leu466=
XM_011542840.1:c.5441_5442delinsTG	XP_011541142.1:p.Leu1814=
XM_011542841.1:c.5441_5442delinsTG	XP_011541143.1:p.Leu1814=
XM_011542842.1:c.5276_5277delinsTG	XP_011541144.1:p.Leu1759=
XM_011542843.1:c.5441_5442delinsTG	XP_011541145.1:p.Leu1814=
XM_011542844.1:c.4397_4398delinsTG	XP_011541146.1:p.Leu1466=
XM_011542845.1:c.4133_4134delinsTG	XP_011541147.1:p.Leu1378=
XM_011542847.1:c.512_513delinsTG	XP_011541149.1:p.Leu171=
NM_001351834.1:c.5441_5442delinsTG	NP_001338763.1:p.Leu1814=
XM_005271562.5:c.5441_5442delinsTG	XP_005271619.2:p.Leu1814=
XM_006718843.4:c.5441_5442delinsTG	XP_006718906.1:p.Leu1814=
XM_006718845.2:c.1397_1398delinsTG	XP_006718908.1:p.Leu466=
XM_011542840.3:c.5441_5442delinsTG	XP_011541142.1:p.Leu1814=
XM_011542842.3:c.5276_5277delinsTG	XP_011541144.1:p.Leu1759=
XM_011542843.2:c.5441_5442delinsTG	XP_011541145.1:p.Leu1814=
XM_011542844.3:c.4397_4398delinsTG	XP_011541146.1:p.Leu1466=
XM_011542845.2:c.4133_4134delinsTG	XP_011541147.1:p.Leu1378=
XM_017017789.2:c.5441_5442delinsTG	XP_016873278.1:p.Leu1814=
XM_017017790.2:c.5441_5442delinsTG	XP_016873279.1:p.Leu1814=
XM_017017791.1:c.5441_5442delinsTG	XP_016873280.1:p.Leu1814=
XR_002957150.1:n.6041_6042delinsTG
NM_001351834.2:c.5441_5442delinsTG	NP_001338763.1:p.Leu1814=
NM_000051.4:c.5441_5442delinsTG MANE Select	NP_000042.3:p.Leu1814=