Canonical Allele Identifier: CA16619126
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 422906
ClinVar RCV Id: RCV000483735
dbSNP Id: rs1064796083

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108251978_108251979delinsAT , CM000673.2:g.108251978_108251979delinsAT GRCh38
NC_000011.9:g.108122705_108122706delinsAT , CM000673.1:g.108122705_108122706delinsAT GRCh37
NC_000011.8:g.107627915_107627916delinsAT NCBI36
NG_009830.1:g.34147_34148delinsAT , LRG_135:g.34147_34148delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1749_1750delinsAT ENSP00000388058.2:p.Tyr583Ter
ENST00000713593.1:c.*1220_*1221delinsAT ENSP00000518889.1:n.*1220_*1221delinsAT
ENST00000278616.9:c.1749_1750delinsAT ENSP00000278616.4:p.Tyr583Ter
ENST00000682516.1:n.1883_1884delinsAT
ENST00000683174.1:n.1899_1900delinsAT
ENST00000683605.1:n.1244_1245delinsAT
ENST00000684037.1:c.*684_*685delinsAT ENSP00000508245.1:n.*684_*685delinsAT
ENST00000684061.1:n.1883_1884delinsAT
ENST00000527805.6:c.1749_1750delinsAT ENSP00000435747.2:p.Tyr583Ter
ENST00000675595.1:c.1584_1585delinsAT ENSP00000502563.1:p.Tyr528Ter
ENST00000675843.1:c.1749_1750delinsAT MANE Select ENSP00000501606.1:p.Tyr583Ter
ENST00000278616.8:c.1749_1750delinsAT ENSP00000278616.4:p.Tyr583Ter
ENST00000452508.6:c.1749_1750delinsAT ENSP00000388058.2:p.Tyr583Ter
ENST00000527805.5:c.1749_1750delinsAT ENSP00000435747.1:p.Tyr583Ter
NM_000051.3:c.1749_1750delinsAT , LRG_135t1:c.1749_1750delinsAT NP_000042.3:p.Tyr583Ter
XM_005271561.3:c.1749_1750delinsAT XP_005271618.2:p.Tyr583Ter
XM_005271562.3:c.1749_1750delinsAT XP_005271619.2:p.Tyr583Ter
XM_006718843.2:c.1749_1750delinsAT XP_006718906.1:p.Tyr583Ter
XM_011542840.1:c.1749_1750delinsAT XP_011541142.1:p.Tyr583Ter
XM_011542841.1:c.1749_1750delinsAT XP_011541143.1:p.Tyr583Ter
XM_011542842.1:c.1584_1585delinsAT XP_011541144.1:p.Tyr528Ter
XM_011542843.1:c.1749_1750delinsAT XP_011541145.1:p.Tyr583Ter
XM_011542844.1:c.705_706delinsAT XP_011541146.1:p.Tyr235Ter
XM_011542845.1:c.441_442delinsAT XP_011541147.1:p.Tyr147Ter
XM_011542846.1:c.1749_1750delinsAT XP_011541148.1:p.Tyr583Ter
NM_001351834.1:c.1749_1750delinsAT NP_001338763.1:p.Tyr583Ter
XM_005271562.5:c.1749_1750delinsAT XP_005271619.2:p.Tyr583Ter
XM_006718843.4:c.1749_1750delinsAT XP_006718906.1:p.Tyr583Ter
XM_011542840.3:c.1749_1750delinsAT XP_011541142.1:p.Tyr583Ter
XM_011542842.3:c.1584_1585delinsAT XP_011541144.1:p.Tyr528Ter
XM_011542843.2:c.1749_1750delinsAT XP_011541145.1:p.Tyr583Ter
XM_011542844.3:c.705_706delinsAT XP_011541146.1:p.Tyr235Ter
XM_011542845.2:c.441_442delinsAT XP_011541147.1:p.Tyr147Ter
XM_017017789.2:c.1749_1750delinsAT XP_016873278.1:p.Tyr583Ter
XM_017017790.2:c.1749_1750delinsAT XP_016873279.1:p.Tyr583Ter
XM_017017791.1:c.1749_1750delinsAT XP_016873280.1:p.Tyr583Ter
XM_017017792.2:c.1749_1750delinsAT XP_016873281.1:p.Tyr583Ter
XR_002957150.1:n.2482_2483delinsAT
NM_001351834.2:c.1749_1750delinsAT NP_001338763.1:p.Tyr583Ter
NM_000051.4:c.1749_1750delinsAT MANE Select NP_000042.3:p.Tyr583Ter