Canonical Allele Identifier: CA516021632
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs782749600
gnomAD v3: X-48681721-TCAG-T
gnomAD v4: X-48681721-TCAG-T
MyVariant Identifiers: chrX:g.48540111_48540113del (hg19) chrX:g.48681722_48681724del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681725_48681727del , CM000685.2:g.48681725_48681727del GRCh38
NC_000023.10:g.48540114_48540116del , CM000685.1:g.48540114_48540116del GRCh37
NC_000023.9:g.48425058_48425060del NCBI36
NG_007877.1:g.2929_2931del , LRG_125:g.2929_2931del

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2095_-34-2093del ENSP00000513844.1:n.-34-2095_-34-2093del
ENST00000450772.5:c.-130-1543_-130-1541del ENSP00000410537.1:n.-130-1543_-130-1541del
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