Canonical Allele Identifier: CA2738724265
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2147649471

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508504dup , CM000685.2:g.77508504dup GRCh38
NC_000023.10:g.76763982dup , CM000685.1:g.76763982dup GRCh37
NC_000023.9:g.76650638dup NCBI36
NG_008838.2:g.282720dup
NG_008838.3:g.282768dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7328dup MANE Select ENSP00000362441.4:p.Asn2443LysfsTer8
ENST00000675732.1:c.2426dup ENSP00000502598.1:p.Asn809LysfsTer8
ENST00000373344.9:c.7328dup ENSP00000362441.4:p.Asn2443LysfsTer8
ENST00000395603.7:c.7214dup ENSP00000378967.3:p.Asn2405LysfsTer8
ENST00000480283.5:c.*6956dup ENSP00000480196.1:n.*6956dup
ENST00000623706.3:n.5648dup
ENST00000624766.1:n.559dup
NM_000489.4:c.7328dup NP_000480.3:p.Asn2443LysfsTer8
NM_138270.3:c.7214dup NP_612114.2:p.Asn2405LysfsTer8
XM_005262153.3:c.7325dup XP_005262210.2:p.Asn2442LysfsTer8
XM_005262154.3:c.7241dup XP_005262211.2:p.Asn2414LysfsTer8
XM_005262155.3:c.7211dup XP_005262212.2:p.Asn2404LysfsTer8
XM_005262156.3:c.7163dup XP_005262213.2:p.Asn2388LysfsTer8
XM_005262157.3:c.7124dup XP_005262214.2:p.Asn2375LysfsTer8
XM_006724666.2:c.7211dup XP_006724729.1:p.Asn2404LysfsTer8
XM_006724667.2:c.7049dup XP_006724730.1:p.Asn2350LysfsTer8
XR_938400.1:n.8920dup
NM_000489.5:c.7328dup NP_000480.3:p.Asn2443LysfsTer8
XM_005262153.5:c.7325dup XP_005262210.2:p.Asn2442LysfsTer8
XM_005262154.5:c.7241dup XP_005262211.2:p.Asn2414LysfsTer8
XM_005262155.4:c.7211dup XP_005262212.2:p.Asn2404LysfsTer8
XM_005262156.4:c.7163dup XP_005262213.2:p.Asn2388LysfsTer8
XM_005262157.5:c.7124dup XP_005262214.2:p.Asn2375LysfsTer8
XM_006724666.4:c.7211dup XP_006724729.1:p.Asn2404LysfsTer8
XM_006724667.3:c.7049dup XP_006724730.1:p.Asn2350LysfsTer8
XM_017029601.2:c.7238dup XP_016885090.1:p.Asn2413LysfsTer8
XM_017029602.1:c.7208dup XP_016885091.1:p.Asn2403LysfsTer8
XM_017029603.1:c.7160dup XP_016885092.1:p.Asn2387LysfsTer8
XM_017029604.2:c.7127dup XP_016885093.1:p.Asn2376LysfsTer8
XM_017029605.1:c.7124dup XP_016885094.1:p.Asn2375LysfsTer8
XM_017029606.2:c.7097dup XP_016885095.1:p.Asn2366LysfsTer8
XM_017029607.2:c.7094dup XP_016885096.1:p.Asn2365LysfsTer8
XM_017029608.2:c.7046dup XP_016885097.1:p.Asn2349LysfsTer8
XM_017029609.1:c.7010dup XP_016885098.1:p.Asn2337LysfsTer8
XM_017029610.1:c.7007dup XP_016885099.1:p.Asn2336LysfsTer8
XM_017029611.1:c.6962dup XP_016885100.1:p.Asn2321LysfsTer8
XR_001755700.2:n.7627dup
NM_138270.4:c.7214dup NP_612114.2:p.Asn2405LysfsTer8
NM_000489.6:c.7328dup MANE Select NP_000480.3:p.Asn2443LysfsTer8
NM_138270.5:c.7214dup NP_612114.2:p.Asn2405LysfsTer8