Canonical Allele Identifier: CA2579648637
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508386dup , CM000685.2:g.77508386dup GRCh38
NC_000023.10:g.76763864dup , CM000685.1:g.76763864dup GRCh37
NC_000023.9:g.76650520dup NCBI36
NG_008838.2:g.282840dup
NG_008838.3:g.282888dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7448dup MANE Select ENSP00000362441.4:p.Asn2483LysfsTer15
ENST00000675732.1:c.2546dup ENSP00000502598.1:p.Asn849LysfsTer15
ENST00000373344.9:c.7448dup ENSP00000362441.4:p.Asn2483LysfsTer15
ENST00000395603.7:c.7334dup ENSP00000378967.3:p.Asn2445LysfsTer15
ENST00000480283.5:c.*7076dup ENSP00000480196.1:n.*7076dup
ENST00000623706.3:n.5768dup
NM_000489.4:c.7448dup NP_000480.3:p.Asn2483LysfsTer15
NM_138270.3:c.7334dup NP_612114.2:p.Asn2445LysfsTer15
XM_005262153.3:c.7445dup XP_005262210.2:p.Asn2482LysfsTer15
XM_005262154.3:c.7361dup XP_005262211.2:p.Asn2454LysfsTer15
XM_005262155.3:c.7331dup XP_005262212.2:p.Asn2444LysfsTer15
XM_005262156.3:c.7283dup XP_005262213.2:p.Asn2428LysfsTer15
XM_005262157.3:c.7244dup XP_005262214.2:p.Asn2415LysfsTer15
XM_006724666.2:c.7331dup XP_006724729.1:p.Asn2444LysfsTer15
XM_006724667.2:c.7169dup XP_006724730.1:p.Asn2390LysfsTer15
XR_938400.1:n.9040dup
NM_000489.5:c.7448dup NP_000480.3:p.Asn2483LysfsTer15
XM_005262153.5:c.7445dup XP_005262210.2:p.Asn2482LysfsTer15
XM_005262154.5:c.7361dup XP_005262211.2:p.Asn2454LysfsTer15
XM_005262155.4:c.7331dup XP_005262212.2:p.Asn2444LysfsTer15
XM_005262156.4:c.7283dup XP_005262213.2:p.Asn2428LysfsTer15
XM_005262157.5:c.7244dup XP_005262214.2:p.Asn2415LysfsTer15
XM_006724666.4:c.7331dup XP_006724729.1:p.Asn2444LysfsTer15
XM_006724667.3:c.7169dup XP_006724730.1:p.Asn2390LysfsTer15
XM_017029601.2:c.7358dup XP_016885090.1:p.Asn2453LysfsTer15
XM_017029602.1:c.7328dup XP_016885091.1:p.Asn2443LysfsTer15
XM_017029603.1:c.7280dup XP_016885092.1:p.Asn2427LysfsTer15
XM_017029604.2:c.7247dup XP_016885093.1:p.Asn2416LysfsTer15
XM_017029605.1:c.7244dup XP_016885094.1:p.Asn2415LysfsTer15
XM_017029606.2:c.7217dup XP_016885095.1:p.Asn2406LysfsTer15
XM_017029607.2:c.7214dup XP_016885096.1:p.Asn2405LysfsTer15
XM_017029608.2:c.7166dup XP_016885097.1:p.Asn2389LysfsTer15
XM_017029609.1:c.7130dup XP_016885098.1:p.Asn2377LysfsTer15
XM_017029610.1:c.7127dup XP_016885099.1:p.Asn2376LysfsTer15
XM_017029611.1:c.7082dup XP_016885100.1:p.Asn2361LysfsTer15
XR_001755700.2:n.7747dup
NM_138270.4:c.7334dup NP_612114.2:p.Asn2445LysfsTer15
NM_000489.6:c.7448dup MANE Select NP_000480.3:p.Asn2483LysfsTer15
NM_138270.5:c.7334dup NP_612114.2:p.Asn2445LysfsTer15