Canonical Allele Identifier: CA2693644759

Gene: WAS

Linked Data

• gnomAD v4: X-48688829-TCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688838_48688927del , CM000685.2:g.48688838_48688927del	GRCh38
NC_000023.10:g.48547227_48547316del , CM000685.1:g.48547227_48547316del	GRCh37
NC_000023.9:g.48432171_48432260del	NCBI36
NG_007877.1:g.10042_10131del , LRG_125:g.10042_10131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474174.2:n.354_443del
ENST00000698625.1:c.1110_1199del	ENSP00000513844.1:p.Pro371_Pro400del
ENST00000698626.1:c.1110_1199del	ENSP00000513845.1:p.Pro371_Pro400del
ENST00000698635.1:c.1110_1199del	ENSP00000513850.1:p.Pro371_Pro400del
ENST00000376701.5:c.1110_1199del MANE Select	ENSP00000365891.4:p.Pro371_Pro400del
ENST00000376701.4:c.1110_1199del	ENSP00000365891.4:p.Pro371_Pro400del
ENST00000474174.1:n.354_443del
NM_000377.2:c.1110_1199del , LRG_125t1:c.1110_1199del	NP_000368.1:p.Pro371_Pro400del
XM_011543977.1:c.954_1043del	XP_011542279.1:p.Pro319_Pro348del
XM_011543977.2:c.954_1043del	XP_011542279.1:p.Pro319_Pro348del
XM_017029786.1:c.1110_1199del	XP_016885275.1:p.Pro371_Pro400del
NM_000377.3:c.1110_1199del MANE Select	NP_000368.1:p.Pro371_Pro400del