Canonical Allele Identifier: CA2580101058

Gene: WAS

Linked Data

• ClinVar Variation Id: 2114109
• ClinVar RCV Id: RCV003042620

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688768dup , CM000685.2:g.48688768dup	GRCh38
NC_000023.10:g.48547157dup , CM000685.1:g.48547157dup	GRCh37
NC_000023.9:g.48432101dup	NCBI36
NG_007877.1:g.9972dup , LRG_125:g.9972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.284dup
ENST00000698625.1:c.1040dup	ENSP00000513844.1:p.Leu347PhefsTer?
ENST00000698626.1:c.1040dup	ENSP00000513845.1:p.Leu347PhefsTer?
ENST00000698635.1:c.1040dup	ENSP00000513850.1:p.Leu347PhefsTer?
ENST00000376701.5:c.1040dup MANE Select	ENSP00000365891.4:p.Leu347PhefsTer?
ENST00000376701.4:c.1040dup	ENSP00000365891.4:p.Leu347PhefsTer?
ENST00000474174.1:n.284dup
NM_000377.2:c.1040dup , LRG_125t1:c.1040dup	NP_000368.1:p.Leu347PhefsTer?
XM_011543977.1:c.932-48dup	XP_011542279.1:n.932-48dup
XM_011543977.2:c.932-48dup	XP_011542279.1:n.932-48dup
XM_017029786.1:c.1040dup	XP_016885275.1:p.Leu347PhefsTer?
NM_000377.3:c.1040dup MANE Select	NP_000368.1:p.Leu347PhefsTer?