Canonical Allele Identifier: CA1998772426

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253933_108253934delinsAG , CM000673.2:g.108253933_108253934delinsAG	GRCh38
NC_000011.9:g.108124660_108124661delinsAG , CM000673.1:g.108124660_108124661delinsAG	GRCh37
NC_000011.8:g.107629870_107629871delinsAG	NCBI36
NG_009830.1:g.36102_36103delinsAG , LRG_135:g.36102_36103delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2018_2019delinsAG	ENSP00000388058.2:p.Lys673=
ENST00000713593.1:c.*1489_*1490delinsAG	ENSP00000518889.1:n.*1489_*1490delinsAG
ENST00000278616.9:c.2018_2019delinsAG	ENSP00000278616.4:p.Lys673=
ENST00000682516.1:n.2152_2153delinsAG
ENST00000683174.1:n.2168_2169delinsAG
ENST00000683605.1:n.1513_1514delinsAG
ENST00000684037.1:c.*953_*954delinsAG	ENSP00000508245.1:n.*953_*954delinsAG
ENST00000684061.1:n.2152_2153delinsAG
ENST00000527805.6:c.2018_2019delinsAG	ENSP00000435747.2:p.Lys673=
ENST00000675595.1:c.1853_1854delinsAG	ENSP00000502563.1:p.Lys618=
ENST00000675843.1:c.2018_2019delinsAG MANE Select	ENSP00000501606.1:p.Lys673=
ENST00000278616.8:c.2018_2019delinsAG	ENSP00000278616.4:p.Lys673=
ENST00000452508.6:c.2018_2019delinsAG	ENSP00000388058.2:p.Lys673=
ENST00000525012.5:n.195_196delinsAG
ENST00000527805.5:c.2018_2019delinsAG	ENSP00000435747.1:p.Lys673=
ENST00000533526.1:n.171_172delinsAG
NM_000051.3:c.2018_2019delinsAG , LRG_135t1:c.2018_2019delinsAG	NP_000042.3:p.Lys673=
XM_005271561.3:c.2018_2019delinsAG	XP_005271618.2:p.Lys673=
XM_005271562.3:c.2018_2019delinsAG	XP_005271619.2:p.Lys673=
XM_006718843.2:c.2018_2019delinsAG	XP_006718906.1:p.Lys673=
XM_011542840.1:c.2018_2019delinsAG	XP_011541142.1:p.Lys673=
XM_011542841.1:c.2018_2019delinsAG	XP_011541143.1:p.Lys673=
XM_011542842.1:c.1853_1854delinsAG	XP_011541144.1:p.Lys618=
XM_011542843.1:c.2018_2019delinsAG	XP_011541145.1:p.Lys673=
XM_011542844.1:c.974_975delinsAG	XP_011541146.1:p.Lys325=
XM_011542845.1:c.710_711delinsAG	XP_011541147.1:p.Lys237=
XM_011542846.1:c.2018_2019delinsAG	XP_011541148.1:p.Lys673=
NM_001351834.1:c.2018_2019delinsAG	NP_001338763.1:p.Lys673=
XM_005271562.5:c.2018_2019delinsAG	XP_005271619.2:p.Lys673=
XM_006718843.4:c.2018_2019delinsAG	XP_006718906.1:p.Lys673=
XM_011542840.3:c.2018_2019delinsAG	XP_011541142.1:p.Lys673=
XM_011542842.3:c.1853_1854delinsAG	XP_011541144.1:p.Lys618=
XM_011542843.2:c.2018_2019delinsAG	XP_011541145.1:p.Lys673=
XM_011542844.3:c.974_975delinsAG	XP_011541146.1:p.Lys325=
XM_011542845.2:c.710_711delinsAG	XP_011541147.1:p.Lys237=
XM_017017789.2:c.2018_2019delinsAG	XP_016873278.1:p.Lys673=
XM_017017790.2:c.2018_2019delinsAG	XP_016873279.1:p.Lys673=
XM_017017791.1:c.2018_2019delinsAG	XP_016873280.1:p.Lys673=
XM_017017792.2:c.2018_2019delinsAG	XP_016873281.1:p.Lys673=
XR_002957150.1:n.2751_2752delinsAG
NM_001351834.2:c.2018_2019delinsAG	NP_001338763.1:p.Lys673=
NM_000051.4:c.2018_2019delinsAG MANE Select	NP_000042.3:p.Lys673=