Canonical Allele Identifier: CA1998764876

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244811_108244812delinsTA , CM000673.2:g.108244811_108244812delinsTA	GRCh38
NC_000011.9:g.108115538_108115539delinsTA , CM000673.1:g.108115538_108115539delinsTA	GRCh37
NC_000011.8:g.107620748_107620749delinsTA	NCBI36
NG_009830.1:g.26980_26981delinsTA , LRG_135:g.26980_26981delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.686_687delinsTA	ENSP00000388058.2:p.Leu229=
ENST00000713593.1:c.*157_*158delinsTA	ENSP00000518889.1:n.*157_*158delinsTA
ENST00000278616.9:c.686_687delinsTA	ENSP00000278616.4:p.Leu229=
ENST00000682430.1:n.785_786delinsTA
ENST00000682516.1:n.820_821delinsTA
ENST00000682956.1:n.820_821delinsTA
ENST00000683100.1:n.3033_3034delinsTA
ENST00000683174.1:n.836_837delinsTA
ENST00000683605.1:n.181_182delinsTA
ENST00000684037.1:c.686_687delinsTA	ENSP00000508245.1:p.Leu229=
ENST00000684061.1:n.820_821delinsTA
ENST00000684179.1:n.655_656delinsTA
ENST00000527805.6:c.686_687delinsTA	ENSP00000435747.2:p.Leu229=
ENST00000675595.1:c.521_522delinsTA	ENSP00000502563.1:p.Leu174=
ENST00000675843.1:c.686_687delinsTA MANE Select	ENSP00000501606.1:p.Leu229=
ENST00000278616.8:c.686_687delinsTA	ENSP00000278616.4:p.Leu229=
ENST00000452508.6:c.686_687delinsTA	ENSP00000388058.2:p.Leu229=
ENST00000527805.5:c.686_687delinsTA	ENSP00000435747.1:p.Leu229=
NM_000051.3:c.686_687delinsTA , LRG_135t1:c.686_687delinsTA	NP_000042.3:p.Leu229=
XM_005271561.3:c.686_687delinsTA	XP_005271618.2:p.Leu229=
XM_005271562.3:c.686_687delinsTA	XP_005271619.2:p.Leu229=
XM_006718843.2:c.686_687delinsTA	XP_006718906.1:p.Leu229=
XM_011542840.1:c.686_687delinsTA	XP_011541142.1:p.Leu229=
XM_011542841.1:c.686_687delinsTA	XP_011541143.1:p.Leu229=
XM_011542842.1:c.521_522delinsTA	XP_011541144.1:p.Leu174=
XM_011542843.1:c.686_687delinsTA	XP_011541145.1:p.Leu229=
XM_011542844.1:c.-359_-358delinsTA	XP_011541146.1:n.-359_-358delinsTA
XM_011542846.1:c.686_687delinsTA	XP_011541148.1:p.Leu229=
NM_001351834.1:c.686_687delinsTA	NP_001338763.1:p.Leu229=
XM_005271562.5:c.686_687delinsTA	XP_005271619.2:p.Leu229=
XM_006718843.4:c.686_687delinsTA	XP_006718906.1:p.Leu229=
XM_011542840.3:c.686_687delinsTA	XP_011541142.1:p.Leu229=
XM_011542842.3:c.521_522delinsTA	XP_011541144.1:p.Leu174=
XM_011542843.2:c.686_687delinsTA	XP_011541145.1:p.Leu229=
XM_011542844.3:c.-359_-358delinsTA	XP_011541146.1:n.-359_-358delinsTA
XM_017017789.2:c.686_687delinsTA	XP_016873278.1:p.Leu229=
XM_017017790.2:c.686_687delinsTA	XP_016873279.1:p.Leu229=
XM_017017791.1:c.686_687delinsTA	XP_016873280.1:p.Leu229=
XM_017017792.2:c.686_687delinsTA	XP_016873281.1:p.Leu229=
XR_002957150.1:n.1419_1420delinsTA
NM_001351834.2:c.686_687delinsTA	NP_001338763.1:p.Leu229=
NM_000051.4:c.686_687delinsTA MANE Select	NP_000042.3:p.Leu229=