Canonical Allele Identifier: CA2615856825

Gene: ATM

Linked Data

• gnomAD v4: 11-108243989-CTTCACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243990_108243995del , CM000673.2:g.108243990_108243995del	GRCh38
NC_000011.9:g.108114717_108114722del , CM000673.1:g.108114717_108114722del	GRCh37
NC_000011.8:g.107619927_107619932del	NCBI36
NG_009830.1:g.26159_26164del , LRG_135:g.26159_26164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.534_539del	ENSP00000388058.2:p.Ser179_Gln180del
ENST00000713593.1:c.*5_*10del	ENSP00000518889.1:n.*5_*10del
ENST00000278616.9:c.534_539del	ENSP00000278616.4:p.Ser179_Gln180del
ENST00000682430.1:n.633_638del
ENST00000682516.1:n.668_673del
ENST00000682956.1:n.668_673del
ENST00000683100.1:n.2212_2217del
ENST00000683174.1:n.684_689del
ENST00000683605.1:n.29_34del
ENST00000684037.1:c.534_539del	ENSP00000508245.1:p.Ser179_Gln180del
ENST00000684061.1:n.668_673del
ENST00000684179.1:n.503_508del
ENST00000527805.6:c.534_539del	ENSP00000435747.2:p.Ser179_Gln180del
ENST00000675595.1:c.369_374del	ENSP00000502563.1:p.Ser124_Gln125del
ENST00000675843.1:c.534_539del MANE Select	ENSP00000501606.1:p.Ser179_Gln180del
ENST00000278616.8:c.534_539del	ENSP00000278616.4:p.Ser179_Gln180del
ENST00000452508.6:c.534_539del	ENSP00000388058.2:p.Ser179_Gln180del
ENST00000527805.5:c.534_539del	ENSP00000435747.1:p.Ser179_Gln180del
ENST00000527891.5:c.369_374del	ENSP00000433955.1:p.Ser124_Gln125del
NM_000051.3:c.534_539del , LRG_135t1:c.534_539del	NP_000042.3:p.Ser179_Gln180del
XM_005271561.3:c.534_539del	XP_005271618.2:p.Ser179_Gln180del
XM_005271562.3:c.534_539del	XP_005271619.2:p.Ser179_Gln180del
XM_006718843.2:c.534_539del	XP_006718906.1:p.Ser179_Gln180del
XM_011542840.1:c.534_539del	XP_011541142.1:p.Ser179_Gln180del
XM_011542841.1:c.534_539del	XP_011541143.1:p.Ser179_Gln180del
XM_011542842.1:c.369_374del	XP_011541144.1:p.Ser124_Gln125del
XM_011542843.1:c.534_539del	XP_011541145.1:p.Ser179_Gln180del
XM_011542844.1:c.-511_-506del	XP_011541146.1:n.-511_-506del
XM_011542846.1:c.534_539del	XP_011541148.1:p.Ser179_Gln180del
NM_001351834.1:c.534_539del	NP_001338763.1:p.Ser179_Gln180del
XM_005271562.5:c.534_539del	XP_005271619.2:p.Ser179_Gln180del
XM_006718843.4:c.534_539del	XP_006718906.1:p.Ser179_Gln180del
XM_011542840.3:c.534_539del	XP_011541142.1:p.Ser179_Gln180del
XM_011542842.3:c.369_374del	XP_011541144.1:p.Ser124_Gln125del
XM_011542843.2:c.534_539del	XP_011541145.1:p.Ser179_Gln180del
XM_011542844.3:c.-511_-506del	XP_011541146.1:n.-511_-506del
XM_017017789.2:c.534_539del	XP_016873278.1:p.Ser179_Gln180del
XM_017017790.2:c.534_539del	XP_016873279.1:p.Ser179_Gln180del
XM_017017791.1:c.534_539del	XP_016873280.1:p.Ser179_Gln180del
XM_017017792.2:c.534_539del	XP_016873281.1:p.Ser179_Gln180del
XR_002957150.1:n.1267_1272del
NM_001351834.2:c.534_539del	NP_001338763.1:p.Ser179_Gln180del
NM_000051.4:c.534_539del MANE Select	NP_000042.3:p.Ser179_Gln180del