Canonical Allele Identifier: CA275226
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 196938
ClinVar RCV Id: RCV000316314
dbSNP Id: rs797044723

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508465_77508466del , CM000685.2:g.77508465_77508466del GRCh38
NC_000023.10:g.76763943_76763944del , CM000685.1:g.76763943_76763944del GRCh37
NC_000023.9:g.76650599_76650600del NCBI36
NG_008838.2:g.282758_282759del
NG_008838.3:g.282806_282807del

Transcript Alleles

HGVS Amino-acid change
ENST00000373344.11:c.7366_7367del MANE Select ENSP00000362441.4:p.Met2456GlufsTer?
ENST00000675732.1:c.2464_2465del ENSP00000502598.1:p.Met822GlufsTer?
ENST00000373344.9:c.7366_7367del ENSP00000362441.4:p.Met2456GlufsTer?
ENST00000395603.7:c.7252_7253del ENSP00000378967.3:p.Met2418GlufsTer?
ENST00000480283.5:c.*6994_*6995del ENSP00000480196.1:n.*6994_*6995del
ENST00000623706.3:n.5686_5687del
NM_000489.4:c.7366_7367del NP_000480.3:p.Met2456GlufsTer?
NM_138270.3:c.7252_7253del NP_612114.2:p.Met2418GlufsTer?
XM_005262153.3:c.7363_7364del XP_005262210.2:p.Met2455GlufsTer?
XM_005262154.3:c.7279_7280del XP_005262211.2:p.Met2427GlufsTer?
XM_005262155.3:c.7249_7250del XP_005262212.2:p.Met2417GlufsTer?
XM_005262156.3:c.7201_7202del XP_005262213.2:p.Met2401GlufsTer?
XM_005262157.3:c.7162_7163del XP_005262214.2:p.Met2388GlufsTer?
XM_006724666.2:c.7249_7250del XP_006724729.1:p.Met2417GlufsTer?
XM_006724667.2:c.7087_7088del XP_006724730.1:p.Met2363GlufsTer?
XR_938400.1:n.8958_8959del
NM_000489.5:c.7366_7367del NP_000480.3:p.Met2456GlufsTer?
XM_005262153.5:c.7363_7364del XP_005262210.2:p.Met2455GlufsTer?
XM_005262154.5:c.7279_7280del XP_005262211.2:p.Met2427GlufsTer?
XM_005262155.4:c.7249_7250del XP_005262212.2:p.Met2417GlufsTer?
XM_005262156.4:c.7201_7202del XP_005262213.2:p.Met2401GlufsTer?
XM_005262157.5:c.7162_7163del XP_005262214.2:p.Met2388GlufsTer?
XM_006724666.4:c.7249_7250del XP_006724729.1:p.Met2417GlufsTer?
XM_006724667.3:c.7087_7088del XP_006724730.1:p.Met2363GlufsTer?
XM_017029601.2:c.7276_7277del XP_016885090.1:p.Met2426GlufsTer?
XM_017029602.1:c.7246_7247del XP_016885091.1:p.Met2416GlufsTer?
XM_017029603.1:c.7198_7199del XP_016885092.1:p.Met2400GlufsTer?
XM_017029604.2:c.7165_7166del XP_016885093.1:p.Met2389GlufsTer?
XM_017029605.1:c.7162_7163del XP_016885094.1:p.Met2388GlufsTer?
XM_017029606.2:c.7135_7136del XP_016885095.1:p.Met2379GlufsTer?
XM_017029607.2:c.7132_7133del XP_016885096.1:p.Met2378GlufsTer?
XM_017029608.2:c.7084_7085del XP_016885097.1:p.Met2362GlufsTer?
XM_017029609.1:c.7048_7049del XP_016885098.1:p.Met2350GlufsTer?
XM_017029610.1:c.7045_7046del XP_016885099.1:p.Met2349GlufsTer?
XM_017029611.1:c.7000_7001del XP_016885100.1:p.Met2334GlufsTer?
XR_001755700.2:n.7665_7666del
NM_138270.4:c.7252_7253del NP_612114.2:p.Met2418GlufsTer?
NM_000489.6:c.7366_7367del MANE Select NP_000480.3:p.Met2456GlufsTer?
NM_138270.5:c.7252_7253del NP_612114.2:p.Met2418GlufsTer?