Canonical Allele Identifier: CA942013743

Gene: ATM

Linked Data

• gnomAD v3: 11-108251948-GGAATCAATAAT-G
• gnomAD v4: 11-108251948-GGAATCAATAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251952_108251962del , CM000673.2:g.108251952_108251962del	GRCh38
NC_000011.9:g.108122679_108122689del , CM000673.1:g.108122679_108122689del	GRCh37
NC_000011.8:g.107627889_107627899del	NCBI36
NG_009830.1:g.34121_34131del , LRG_135:g.34121_34131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1723_1733del	ENSP00000388058.2:p.Ser575MetfsTer10
ENST00000713593.1:c.*1194_*1204del	ENSP00000518889.1:n.*1194_*1204del
ENST00000278616.9:c.1723_1733del	ENSP00000278616.4:p.Ser575MetfsTer10
ENST00000682516.1:n.1857_1867del
ENST00000683174.1:n.1873_1883del
ENST00000683605.1:n.1218_1228del
ENST00000684037.1:c.*658_*668del	ENSP00000508245.1:n.*658_*668del
ENST00000684061.1:n.1857_1867del
ENST00000527805.6:c.1723_1733del	ENSP00000435747.2:p.Ser575MetfsTer10
ENST00000675595.1:c.1558_1568del	ENSP00000502563.1:p.Ser520MetfsTer10
ENST00000675843.1:c.1723_1733del MANE Select	ENSP00000501606.1:p.Ser575MetfsTer10
ENST00000278616.8:c.1723_1733del	ENSP00000278616.4:p.Ser575MetfsTer10
ENST00000452508.6:c.1723_1733del	ENSP00000388058.2:p.Ser575MetfsTer10
ENST00000527805.5:c.1723_1733del	ENSP00000435747.1:p.Ser575MetfsTer10
NM_000051.3:c.1723_1733del , LRG_135t1:c.1723_1733del	NP_000042.3:p.Ser575MetfsTer10
XM_005271561.3:c.1723_1733del	XP_005271618.2:p.Ser575MetfsTer10
XM_005271562.3:c.1723_1733del	XP_005271619.2:p.Ser575MetfsTer10
XM_006718843.2:c.1723_1733del	XP_006718906.1:p.Ser575MetfsTer10
XM_011542840.1:c.1723_1733del	XP_011541142.1:p.Ser575MetfsTer10
XM_011542841.1:c.1723_1733del	XP_011541143.1:p.Ser575MetfsTer10
XM_011542842.1:c.1558_1568del	XP_011541144.1:p.Ser520MetfsTer10
XM_011542843.1:c.1723_1733del	XP_011541145.1:p.Ser575MetfsTer10
XM_011542844.1:c.679_689del	XP_011541146.1:p.Ser227MetfsTer10
XM_011542845.1:c.415_425del	XP_011541147.1:p.Ser139MetfsTer10
XM_011542846.1:c.1723_1733del	XP_011541148.1:p.Ser575MetfsTer10
NM_001351834.1:c.1723_1733del	NP_001338763.1:p.Ser575MetfsTer10
XM_005271562.5:c.1723_1733del	XP_005271619.2:p.Ser575MetfsTer10
XM_006718843.4:c.1723_1733del	XP_006718906.1:p.Ser575MetfsTer10
XM_011542840.3:c.1723_1733del	XP_011541142.1:p.Ser575MetfsTer10
XM_011542842.3:c.1558_1568del	XP_011541144.1:p.Ser520MetfsTer10
XM_011542843.2:c.1723_1733del	XP_011541145.1:p.Ser575MetfsTer10
XM_011542844.3:c.679_689del	XP_011541146.1:p.Ser227MetfsTer10
XM_011542845.2:c.415_425del	XP_011541147.1:p.Ser139MetfsTer10
XM_017017789.2:c.1723_1733del	XP_016873278.1:p.Ser575MetfsTer10
XM_017017790.2:c.1723_1733del	XP_016873279.1:p.Ser575MetfsTer10
XM_017017791.1:c.1723_1733del	XP_016873280.1:p.Ser575MetfsTer10
XM_017017792.2:c.1723_1733del	XP_016873281.1:p.Ser575MetfsTer10
XR_002957150.1:n.2456_2466del
NM_001351834.2:c.1723_1733del	NP_001338763.1:p.Ser575MetfsTer10
NM_000051.4:c.1723_1733del MANE Select	NP_000042.3:p.Ser575MetfsTer10