Canonical Allele Identifier: CA645294129
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 426548
ClinVar RCV Id: RCV000489103
dbSNP Id: rs1085307678
MyVariant Identifiers: chrX:g.48544152del (hg19) chrX:g.48685763del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48685763del , CM000685.2:g.48685763del GRCh38
NC_000023.10:g.48544152del , CM000685.1:g.48544152del GRCh37
NC_000023.9:g.48429096del NCBI36
NG_007877.1:g.6967del , LRG_125:g.6967del

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.423del
ENST00000490627.2:n.2del
ENST00000698625.1:c.390del ENSP00000513844.1:p.Asp130GlufsTer?
ENST00000698626.1:c.390del ENSP00000513845.1:p.Asp130GlufsTer?
ENST00000698635.1:c.390del ENSP00000513850.1:p.Asp130GlufsTer?
ENST00000376701.5:c.390del MANE Select ENSP00000365891.4:p.Asp130GlufsTer?
ENST00000376701.4:c.390del ENSP00000365891.4:p.Asp130GlufsTer?
ENST00000450772.5:c.390del ENSP00000410537.1:p.Asp130GlufsTer?
ENST00000465982.5:n.425del
ENST00000483750.5:n.416del
NM_000377.2:c.390del , LRG_125t1:c.390del NP_000368.1:p.Asp130GlufsTer?
XM_011543977.1:c.390del XP_011542279.1:p.Asp130GlufsTer?
XM_011543977.2:c.390del XP_011542279.1:p.Asp130GlufsTer?
XM_017029786.1:c.390del XP_016885275.1:p.Asp130GlufsTer?
NM_000377.3:c.390del MANE Select NP_000368.1:p.Asp130GlufsTer?
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