Canonical Allele Identifier: CA2580612369

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1446565
• ClinVar RCV Id: RCV001987732
• dbSNP Id: rs2147651554

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508570_77508572del , CM000685.2:g.77508570_77508572del	GRCh38
NC_000023.10:g.76764048_76764050del , CM000685.1:g.76764048_76764050del	GRCh37
NC_000023.9:g.76650704_76650706del	NCBI36
NG_008838.2:g.282655_282657del
NG_008838.3:g.282703_282705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7263_7265del MANE Select	ENSP00000362441.4:p.Gln2422del
ENST00000675732.1:c.2361_2363del	ENSP00000502598.1:p.Gln788del
ENST00000373344.9:c.7263_7265del	ENSP00000362441.4:p.Gln2422del
ENST00000395603.7:c.7149_7151del	ENSP00000378967.3:p.Gln2384del
ENST00000480283.5:c.*6891_*6893del	ENSP00000480196.1:n.*6891_*6893del
ENST00000623706.3:n.5583_5585del
ENST00000624766.1:n.494_496del
NM_000489.4:c.7263_7265del	NP_000480.3:p.Gln2422del
NM_138270.3:c.7149_7151del	NP_612114.2:p.Gln2384del
XM_005262153.3:c.7260_7262del	XP_005262210.2:p.Gln2421del
XM_005262154.3:c.7176_7178del	XP_005262211.2:p.Gln2393del
XM_005262155.3:c.7146_7148del	XP_005262212.2:p.Gln2383del
XM_005262156.3:c.7098_7100del	XP_005262213.2:p.Gln2367del
XM_005262157.3:c.7059_7061del	XP_005262214.2:p.Gln2354del
XM_006724666.2:c.7146_7148del	XP_006724729.1:p.Gln2383del
XM_006724667.2:c.6984_6986del	XP_006724730.1:p.Gln2329del
XR_938400.1:n.8855_8857del
NM_000489.5:c.7263_7265del	NP_000480.3:p.Gln2422del
XM_005262153.5:c.7260_7262del	XP_005262210.2:p.Gln2421del
XM_005262154.5:c.7176_7178del	XP_005262211.2:p.Gln2393del
XM_005262155.4:c.7146_7148del	XP_005262212.2:p.Gln2383del
XM_005262156.4:c.7098_7100del	XP_005262213.2:p.Gln2367del
XM_005262157.5:c.7059_7061del	XP_005262214.2:p.Gln2354del
XM_006724666.4:c.7146_7148del	XP_006724729.1:p.Gln2383del
XM_006724667.3:c.6984_6986del	XP_006724730.1:p.Gln2329del
XM_017029601.2:c.7173_7175del	XP_016885090.1:p.Gln2392del
XM_017029602.1:c.7143_7145del	XP_016885091.1:p.Gln2382del
XM_017029603.1:c.7095_7097del	XP_016885092.1:p.Gln2366del
XM_017029604.2:c.7062_7064del	XP_016885093.1:p.Gln2355del
XM_017029605.1:c.7059_7061del	XP_016885094.1:p.Gln2354del
XM_017029606.2:c.7032_7034del	XP_016885095.1:p.Gln2345del
XM_017029607.2:c.7029_7031del	XP_016885096.1:p.Gln2344del
XM_017029608.2:c.6981_6983del	XP_016885097.1:p.Gln2328del
XM_017029609.1:c.6945_6947del	XP_016885098.1:p.Gln2316del
XM_017029610.1:c.6942_6944del	XP_016885099.1:p.Gln2315del
XM_017029611.1:c.6897_6899del	XP_016885100.1:p.Gln2300del
XR_001755700.2:n.7562_7564del
NM_138270.4:c.7149_7151del	NP_612114.2:p.Gln2384del
NM_000489.6:c.7263_7265del MANE Select	NP_000480.3:p.Gln2422del
NM_138270.5:c.7149_7151del	NP_612114.2:p.Gln2384del