Canonical Allele Identifier: CA1998763388

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243954_108243957delinsATTG , CM000673.2:g.108243954_108243957delinsATTG	GRCh38
NC_000011.9:g.108114681_108114684delinsATTG , CM000673.1:g.108114681_108114684delinsATTG	GRCh37
NC_000011.8:g.107619891_107619894delinsATTG	NCBI36
NG_009830.1:g.26123_26126delinsATTG , LRG_135:g.26123_26126delinsATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.498_501delinsATTG	ENSP00000388058.2:p.Glu166=
ENST00000713593.1:c.497-21_497-18delinsATTG	ENSP00000518889.1:n.497-21_497-18delinsATTG
ENST00000278616.9:c.498_501delinsATTG	ENSP00000278616.4:p.Glu166=
ENST00000682430.1:n.597_600delinsATTG
ENST00000682516.1:n.632_635delinsATTG
ENST00000682956.1:n.632_635delinsATTG
ENST00000683100.1:n.2176_2179delinsATTG
ENST00000683174.1:n.648_651delinsATTG
ENST00000684037.1:c.498_501delinsATTG	ENSP00000508245.1:p.Glu166=
ENST00000684061.1:n.632_635delinsATTG
ENST00000684179.1:n.467_470delinsATTG
ENST00000527805.6:c.498_501delinsATTG	ENSP00000435747.2:p.Glu166=
ENST00000675595.1:c.333_336delinsATTG	ENSP00000502563.1:p.Lys111=
ENST00000675843.1:c.498_501delinsATTG MANE Select	ENSP00000501606.1:p.Glu166=
ENST00000278616.8:c.498_501delinsATTG	ENSP00000278616.4:p.Glu166=
ENST00000452508.6:c.498_501delinsATTG	ENSP00000388058.2:p.Glu166=
ENST00000527805.5:c.498_501delinsATTG	ENSP00000435747.1:p.Glu166=
ENST00000527891.5:c.333_336delinsATTG	ENSP00000433955.1:p.Lys111=
NM_000051.3:c.498_501delinsATTG , LRG_135t1:c.498_501delinsATTG	NP_000042.3:p.Glu166=
XM_005271561.3:c.498_501delinsATTG	XP_005271618.2:p.Glu166=
XM_005271562.3:c.498_501delinsATTG	XP_005271619.2:p.Glu166=
XM_006718843.2:c.498_501delinsATTG	XP_006718906.1:p.Glu166=
XM_011542840.1:c.498_501delinsATTG	XP_011541142.1:p.Glu166=
XM_011542841.1:c.498_501delinsATTG	XP_011541143.1:p.Glu166=
XM_011542842.1:c.333_336delinsATTG	XP_011541144.1:p.Lys111=
XM_011542843.1:c.498_501delinsATTG	XP_011541145.1:p.Glu166=
XM_011542844.1:c.-526-21_-526-18delinsATTG	XP_011541146.1:n.-526-21_-526-18delinsATTG
XM_011542846.1:c.498_501delinsATTG	XP_011541148.1:p.Glu166=
NM_001351834.1:c.498_501delinsATTG	NP_001338763.1:p.Glu166=
XM_005271562.5:c.498_501delinsATTG	XP_005271619.2:p.Glu166=
XM_006718843.4:c.498_501delinsATTG	XP_006718906.1:p.Glu166=
XM_011542840.3:c.498_501delinsATTG	XP_011541142.1:p.Glu166=
XM_011542842.3:c.333_336delinsATTG	XP_011541144.1:p.Lys111=
XM_011542843.2:c.498_501delinsATTG	XP_011541145.1:p.Glu166=
XM_011542844.3:c.-526-21_-526-18delinsATTG	XP_011541146.1:n.-526-21_-526-18delinsATTG
XM_017017789.2:c.498_501delinsATTG	XP_016873278.1:p.Glu166=
XM_017017790.2:c.498_501delinsATTG	XP_016873279.1:p.Glu166=
XM_017017791.1:c.498_501delinsATTG	XP_016873280.1:p.Glu166=
XM_017017792.2:c.498_501delinsATTG	XP_016873281.1:p.Glu166=
XR_002957150.1:n.1231_1234delinsATTG
NM_001351834.2:c.498_501delinsATTG	NP_001338763.1:p.Glu166=
NM_000051.4:c.498_501delinsATTG MANE Select	NP_000042.3:p.Glu166=