Canonical Allele Identifier: CA338956
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 216019
ClinVar RCV Id: RCV000199901
dbSNP Id: rs863224460

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250749_108250756del , CM000673.2:g.108250749_108250756del GRCh38
NC_000011.9:g.108121476_108121483del , CM000673.1:g.108121476_108121483del GRCh37
NC_000011.8:g.107626686_107626693del NCBI36
NG_009830.1:g.32918_32925del , LRG_135:g.32918_32925del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1284_1291del ENSP00000388058.2:p.Asn429AlafsTer?
ENST00000713593.1:c.*755_*762del ENSP00000518889.1:n.*755_*762del
ENST00000278616.9:c.1284_1291del ENSP00000278616.4:p.Asn429AlafsTer?
ENST00000682516.1:n.1418_1425del
ENST00000682956.1:n.1418_1425del
ENST00000683174.1:n.1434_1441del
ENST00000683605.1:n.779_786del
ENST00000684037.1:c.*219_*226del ENSP00000508245.1:n.*219_*226del
ENST00000684061.1:n.1418_1425del
ENST00000684179.1:n.1253_1260del
ENST00000527805.6:c.1284_1291del ENSP00000435747.2:p.Asn429AlafsTer?
ENST00000675595.1:c.1119_1126del ENSP00000502563.1:p.Asn374AlafsTer?
ENST00000675843.1:c.1284_1291del MANE Select ENSP00000501606.1:p.Asn429AlafsTer?
ENST00000278616.8:c.1284_1291del ENSP00000278616.4:p.Asn429AlafsTer?
ENST00000452508.6:c.1284_1291del ENSP00000388058.2:p.Asn429AlafsTer?
ENST00000527805.5:c.1284_1291del ENSP00000435747.1:p.Asn429AlafsTer?
NM_000051.3:c.1284_1291del , LRG_135t1:c.1284_1291del NP_000042.3:p.Asn429AlafsTer?
XM_005271561.3:c.1284_1291del XP_005271618.2:p.Asn429AlafsTer?
XM_005271562.3:c.1284_1291del XP_005271619.2:p.Asn429AlafsTer?
XM_006718843.2:c.1284_1291del XP_006718906.1:p.Asn429AlafsTer?
XM_011542840.1:c.1284_1291del XP_011541142.1:p.Asn429AlafsTer?
XM_011542841.1:c.1284_1291del XP_011541143.1:p.Asn429AlafsTer?
XM_011542842.1:c.1119_1126del XP_011541144.1:p.Asn374AlafsTer?
XM_011542843.1:c.1284_1291del XP_011541145.1:p.Asn429AlafsTer?
XM_011542844.1:c.240_247del XP_011541146.1:p.Asn81AlafsTer?
XM_011542845.1:c.-25_-18del XP_011541147.1:n.-25_-18del
XM_011542846.1:c.1284_1291del XP_011541148.1:p.Asn429AlafsTer?
NM_001351834.1:c.1284_1291del NP_001338763.1:p.Asn429AlafsTer?
XM_005271562.5:c.1284_1291del XP_005271619.2:p.Asn429AlafsTer?
XM_006718843.4:c.1284_1291del XP_006718906.1:p.Asn429AlafsTer?
XM_011542840.3:c.1284_1291del XP_011541142.1:p.Asn429AlafsTer?
XM_011542842.3:c.1119_1126del XP_011541144.1:p.Asn374AlafsTer?
XM_011542843.2:c.1284_1291del XP_011541145.1:p.Asn429AlafsTer?
XM_011542844.3:c.240_247del XP_011541146.1:p.Asn81AlafsTer?
XM_011542845.2:c.-25_-18del XP_011541147.1:n.-25_-18del
XM_017017789.2:c.1284_1291del XP_016873278.1:p.Asn429AlafsTer?
XM_017017790.2:c.1284_1291del XP_016873279.1:p.Asn429AlafsTer?
XM_017017791.1:c.1284_1291del XP_016873280.1:p.Asn429AlafsTer?
XM_017017792.2:c.1284_1291del XP_016873281.1:p.Asn429AlafsTer?
XR_002957150.1:n.2017_2024del
NM_001351834.2:c.1284_1291del NP_001338763.1:p.Asn429AlafsTer?
NM_000051.4:c.1284_1291del MANE Select NP_000042.3:p.Asn429AlafsTer?