Canonical Allele Identifier: CA3267265736

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243969_108244005del , CM000673.2:g.108243969_108244005del	GRCh38
NC_000011.9:g.108114696_108114732del , CM000673.1:g.108114696_108114732del	GRCh37
NC_000011.8:g.107619906_107619942del	NCBI36
NG_009830.1:g.26138_26174del , LRG_135:g.26138_26174del

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.513_549del MANE Select	NP_000042.3:p.Tyr171Ter
ENST00000675843.1:c.513_549del MANE Select	ENSP00000501606.1:p.Tyr171Ter
NM_000051.3:c.513_549del , LRG_135t1:c.513_549del	NP_000042.3:p.Tyr171Ter
NM_001351834.1:c.513_549del	NP_001338763.1:p.Tyr171Ter
NM_001351834.2:c.513_549del	NP_001338763.1:p.Tyr171Ter
ENST00000278616.8:c.513_549del	ENSP00000278616.4:p.Tyr171Ter
ENST00000278616.9:c.513_549del	ENSP00000278616.4:p.Tyr171Ter
ENST00000452508.6:c.513_549del	ENSP00000388058.2:p.Tyr171Ter
ENST00000452508.7:c.513_549del	ENSP00000388058.2:p.Tyr171Ter
ENST00000527805.5:c.513_549del	ENSP00000435747.1:p.Tyr171Ter
ENST00000527805.6:c.513_549del	ENSP00000435747.2:p.Tyr171Ter
ENST00000527891.5:c.348_384del	ENSP00000433955.1:p.Tyr116Ter
ENST00000675595.1:c.348_384del	ENSP00000502563.1:p.Tyr116Ter
ENST00000682430.1:n.612_648del
ENST00000682516.1:n.647_683del
ENST00000682956.1:n.647_683del
ENST00000683100.1:n.2191_2227del
ENST00000683174.1:n.663_699del
ENST00000683605.1:n.8_44del
ENST00000684037.1:c.513_549del	ENSP00000508245.1:p.Tyr171Ter
ENST00000684061.1:n.647_683del
ENST00000684179.1:n.482_518del
ENST00000713593.1:c.497-6_*20del
XM_005271561.3:c.513_549del	XP_005271618.2:p.Tyr171Ter
XM_005271562.3:c.513_549del	XP_005271619.2:p.Tyr171Ter
XM_005271562.5:c.513_549del	XP_005271619.2:p.Tyr171Ter
XM_006718843.2:c.513_549del	XP_006718906.1:p.Tyr171Ter
XM_006718843.4:c.513_549del	XP_006718906.1:p.Tyr171Ter
XM_011542840.1:c.513_549del	XP_011541142.1:p.Tyr171Ter
XM_011542840.3:c.513_549del	XP_011541142.1:p.Tyr171Ter
XM_011542841.1:c.513_549del	XP_011541143.1:p.Tyr171Ter
XM_011542842.1:c.348_384del	XP_011541144.1:p.Tyr116Ter
XM_011542842.3:c.348_384del	XP_011541144.1:p.Tyr116Ter
XM_011542843.1:c.513_549del	XP_011541145.1:p.Tyr171Ter
XM_011542843.2:c.513_549del	XP_011541145.1:p.Tyr171Ter
XM_011542844.1:c.-526-6_-496del
XM_011542844.3:c.-526-6_-496del
XM_011542846.1:c.513_549del	XP_011541148.1:p.Tyr171Ter
XM_017017789.2:c.513_549del	XP_016873278.1:p.Tyr171Ter
XM_017017790.2:c.513_549del	XP_016873279.1:p.Tyr171Ter
XM_017017791.1:c.513_549del	XP_016873280.1:p.Tyr171Ter
XM_017017792.2:c.513_549del	XP_016873281.1:p.Tyr171Ter
XR_002957150.1:n.1246_1282del