Canonical Allele Identifier: CA16043275
Gene: WAS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373820
ClinVar RCV Id: RCV000414714
dbSNP Id: rs1057518633

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688911_48688918dup , CM000685.2:g.48688911_48688918dup GRCh38
NC_000023.9:g.48432244_48432251dup NCBI36
NC_000023.10:g.48547300_48547307dup , CM000685.1:g.48547300_48547307dup GRCh37
NG_007877.1:g.10115_10122dup , LRG_125:g.10115_10122dup

Transcript Alleles

HGVS Amino-acid change
ENST00000376701.4:c.1183_1190dup ENSP00000365891.4:p.Pro398HisfsTer?
ENST00000474174.1:n.427_434dup
NM_000377.2:c.1183_1190dup , LRG_125t1:c.1183_1190dup NP_000368.1:p.Pro398HisfsTer?
XM_011543977.1:c.1027_1034dup XP_011542279.1:p.Pro346HisfsTer?