Canonical Allele Identifier: CA2580101392

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1802595
• ClinVar RCV Id: RCV002465434

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508464dup , CM000685.2:g.77508464dup	GRCh38
NC_000023.10:g.76763942dup , CM000685.1:g.76763942dup	GRCh37
NC_000023.9:g.76650598dup	NCBI36
NG_008838.2:g.282758dup
NG_008838.3:g.282806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7366dup MANE Select	ENSP00000362441.4:p.Met2456AsnfsTer?
ENST00000675732.1:c.2464dup	ENSP00000502598.1:p.Met822AsnfsTer?
ENST00000373344.9:c.7366dup	ENSP00000362441.4:p.Met2456AsnfsTer?
ENST00000395603.7:c.7252dup	ENSP00000378967.3:p.Met2418AsnfsTer?
ENST00000480283.5:c.*6994dup	ENSP00000480196.1:n.*6994dup
ENST00000623706.3:n.5686dup
NM_000489.4:c.7366dup	NP_000480.3:p.Met2456AsnfsTer?
NM_138270.3:c.7252dup	NP_612114.2:p.Met2418AsnfsTer?
XM_005262153.3:c.7363dup	XP_005262210.2:p.Met2455AsnfsTer?
XM_005262154.3:c.7279dup	XP_005262211.2:p.Met2427AsnfsTer?
XM_005262155.3:c.7249dup	XP_005262212.2:p.Met2417AsnfsTer?
XM_005262156.3:c.7201dup	XP_005262213.2:p.Met2401AsnfsTer?
XM_005262157.3:c.7162dup	XP_005262214.2:p.Met2388AsnfsTer?
XM_006724666.2:c.7249dup	XP_006724729.1:p.Met2417AsnfsTer?
XM_006724667.2:c.7087dup	XP_006724730.1:p.Met2363AsnfsTer?
XR_938400.1:n.8958dup
NM_000489.5:c.7366dup	NP_000480.3:p.Met2456AsnfsTer?
XM_005262153.5:c.7363dup	XP_005262210.2:p.Met2455AsnfsTer?
XM_005262154.5:c.7279dup	XP_005262211.2:p.Met2427AsnfsTer?
XM_005262155.4:c.7249dup	XP_005262212.2:p.Met2417AsnfsTer?
XM_005262156.4:c.7201dup	XP_005262213.2:p.Met2401AsnfsTer?
XM_005262157.5:c.7162dup	XP_005262214.2:p.Met2388AsnfsTer?
XM_006724666.4:c.7249dup	XP_006724729.1:p.Met2417AsnfsTer?
XM_006724667.3:c.7087dup	XP_006724730.1:p.Met2363AsnfsTer?
XM_017029601.2:c.7276dup	XP_016885090.1:p.Met2426AsnfsTer?
XM_017029602.1:c.7246dup	XP_016885091.1:p.Met2416AsnfsTer?
XM_017029603.1:c.7198dup	XP_016885092.1:p.Met2400AsnfsTer?
XM_017029604.2:c.7165dup	XP_016885093.1:p.Met2389AsnfsTer?
XM_017029605.1:c.7162dup	XP_016885094.1:p.Met2388AsnfsTer?
XM_017029606.2:c.7135dup	XP_016885095.1:p.Met2379AsnfsTer?
XM_017029607.2:c.7132dup	XP_016885096.1:p.Met2378AsnfsTer?
XM_017029608.2:c.7084dup	XP_016885097.1:p.Met2362AsnfsTer?
XM_017029609.1:c.7048dup	XP_016885098.1:p.Met2350AsnfsTer?
XM_017029610.1:c.7045dup	XP_016885099.1:p.Met2349AsnfsTer?
XM_017029611.1:c.7000dup	XP_016885100.1:p.Met2334AsnfsTer?
XR_001755700.2:n.7665dup
NM_138270.4:c.7252dup	NP_612114.2:p.Met2418AsnfsTer?
NM_000489.6:c.7366dup MANE Select	NP_000480.3:p.Met2456AsnfsTer?
NM_138270.5:c.7252dup	NP_612114.2:p.Met2418AsnfsTer?