Canonical Allele Identifier: CA878374622

Gene: ATRX

Linked Data

• dbSNP Id: rs1186988931
• gnomAD v3: X-77652297-CTCCTCCTCCTCT-C
• gnomAD v4: X-77652297-CTCCTCCTCCTCT-C
• MyVariant Identifiers: chrX:g.77652298_77652309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652312_77652323del , CM000685.2:g.77652312_77652323del	GRCh38
NC_000023.10:g.76907802_76907813del , CM000685.1:g.76907802_76907813del	GRCh37
NC_000023.9:g.76794458_76794469del	NCBI36
NG_008838.2:g.138913_138924del
NG_008838.3:g.138961_138972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4362_4373del MANE Select	ENSP00000362441.4:p.Glu1455_Glu1458del
ENST00000373344.9:c.4362_4373del	ENSP00000362441.4:p.Glu1455_Glu1458del
ENST00000395603.7:c.4248_4259del	ENSP00000378967.3:p.Glu1417_Glu1420del
ENST00000480283.5:c.*3990_*4001del	ENSP00000480196.1:n.*3990_*4001del
NM_000489.4:c.4362_4373del	NP_000480.3:p.Glu1455_Glu1458del
NM_138270.3:c.4248_4259del	NP_612114.2:p.Glu1417_Glu1420del
XM_005262153.3:c.4359_4370del	XP_005262210.2:p.Glu1454_Glu1457del
XM_005262154.3:c.4275_4286del	XP_005262211.2:p.Glu1426_Glu1429del
XM_005262155.3:c.4245_4256del	XP_005262212.2:p.Glu1416_Glu1419del
XM_005262156.3:c.4197_4208del	XP_005262213.2:p.Glu1400_Glu1403del
XM_005262157.3:c.4158_4169del	XP_005262214.2:p.Glu1387_Glu1390del
XM_006724666.2:c.4245_4256del	XP_006724729.1:p.Glu1416_Glu1419del
XM_006724667.2:c.4083_4094del	XP_006724730.1:p.Glu1362_Glu1365del
XM_006724668.2:c.4362_4373del	XP_006724731.1:p.Glu1455_Glu1458del
XR_938400.1:n.4630_4641del
NM_000489.5:c.4362_4373del	NP_000480.3:p.Glu1455_Glu1458del
XM_005262153.5:c.4359_4370del	XP_005262210.2:p.Glu1454_Glu1457del
XM_005262154.5:c.4275_4286del	XP_005262211.2:p.Glu1426_Glu1429del
XM_005262155.4:c.4245_4256del	XP_005262212.2:p.Glu1416_Glu1419del
XM_005262156.4:c.4197_4208del	XP_005262213.2:p.Glu1400_Glu1403del
XM_005262157.5:c.4158_4169del	XP_005262214.2:p.Glu1387_Glu1390del
XM_006724666.4:c.4245_4256del	XP_006724729.1:p.Glu1416_Glu1419del
XM_006724667.3:c.4083_4094del	XP_006724730.1:p.Glu1362_Glu1365del
XM_006724668.3:c.4362_4373del	XP_006724731.1:p.Glu1455_Glu1458del
XM_017029601.2:c.4272_4283del	XP_016885090.1:p.Glu1425_Glu1428del
XM_017029602.1:c.4242_4253del	XP_016885091.1:p.Glu1415_Glu1418del
XM_017029603.1:c.4194_4205del	XP_016885092.1:p.Glu1399_Glu1402del
XM_017029604.2:c.4161_4172del	XP_016885093.1:p.Glu1388_Glu1391del
XM_017029605.1:c.4158_4169del	XP_016885094.1:p.Glu1387_Glu1390del
XM_017029606.2:c.4131_4142del	XP_016885095.1:p.Glu1378_Glu1381del
XM_017029607.2:c.4128_4139del	XP_016885096.1:p.Glu1377_Glu1380del
XM_017029608.2:c.4080_4091del	XP_016885097.1:p.Glu1361_Glu1364del
XM_017029609.1:c.4044_4055del	XP_016885098.1:p.Glu1349_Glu1352del
XM_017029610.1:c.4041_4052del	XP_016885099.1:p.Glu1348_Glu1351del
XM_017029611.1:c.3996_4007del	XP_016885100.1:p.Glu1333_Glu1336del
XR_001755700.2:n.4587_4598del
NM_138270.4:c.4248_4259del	NP_612114.2:p.Glu1417_Glu1420del
NM_000489.6:c.4362_4373del MANE Select	NP_000480.3:p.Glu1455_Glu1458del
NM_138270.5:c.4248_4259del	NP_612114.2:p.Glu1417_Glu1420del