Canonical Allele Identifier: CA16041426
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370874
ClinVar RCV Id: RCV000411247
dbSNP Id: rs1057516833

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329097C>G , CM000673.2:g.108329097C>G GRCh38
NC_000011.9:g.108199824C>G , CM000673.1:g.108199824C>G GRCh37
NC_000011.8:g.107705034C>G NCBI36
NG_009830.1:g.111266C>G , LRG_135:g.111266C>G
NG_054724.1:g.145736G>C

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.7166C>G , LRG_135t1:c.7166C>G (ATM) NP_000042.3:p.Ser2389Ter
XM_005271561.3:c.7166C>G (ATM) XP_005271618.2:p.Ser2389Ter
XM_005271562.3:c.7166C>G (ATM) XP_005271619.2:p.Ser2389Ter
XM_006718843.2:c.7166C>G (ATM) XP_006718906.1:p.Ser2389Ter
XM_006718845.1:c.3122C>G (ATM) XP_006718908.1:p.Ser1041Ter
XM_011542840.1:c.7166C>G (ATM) XP_011541142.1:p.Ser2389Ter
XM_011542841.1:c.7166C>G (ATM) XP_011541143.1:p.Ser2389Ter
XM_011542842.1:c.7001C>G (ATM) XP_011541144.1:p.Ser2334Ter
XM_011542843.1:c.7166C>G (ATM) XP_011541145.1:p.Ser2389Ter
XM_011542844.1:c.6122C>G (ATM) XP_011541146.1:p.Ser2041Ter
XM_011542845.1:c.5858C>G (ATM) XP_011541147.1:p.Ser1953Ter
XM_011542847.1:c.2237C>G (ATM) XP_011541149.1:p.Ser746Ter
NM_001330368.1:c.641-20026G>C (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.*38+6123G>C (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.7166C>G (ATM) VV NP_001338763.1:p.Ser2389Ter
XM_005271562.5:c.7166C>G (ATM)
XM_006718843.4:c.7166C>G (ATM)
XM_006718845.2:c.3122C>G (ATM)
XM_011542840.3:c.7166C>G (ATM)
XM_011542842.3:c.7001C>G (ATM)
XM_011542843.2:c.7166C>G (ATM)
XM_011542844.3:c.6122C>G (ATM)
XM_011542845.2:c.5858C>G (ATM)
XM_017017789.2:c.7166C>G (ATM) XP_016873278.1:p.Ser2389Ter
XM_017017790.2:c.7166C>G (ATM) XP_016873279.1:p.Ser2389Ter
ENST00000278616.8:c.7166C>G ENSP00000278616.4:p.Ser2389Ter
ENST00000452508.6:c.7166C>G ENSP00000388058.2:p.Ser2389Ter
ENST00000524792.5:n.3381C>G
ENST00000525537.2:n.442C>G
ENST00000525729.5:c.641-20026G>C ENSP00000433395.1:p.=
ENST00000527389.2:n.191C>G
ENST00000533690.5:n.2570C>G