Canonical Allele Identifier: CA2580101064

Gene: WAS

Linked Data

• ClinVar Variation Id: 2113185
• ClinVar RCV Id: RCV003027190

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688931del , CM000685.2:g.48688931del	GRCh38
NC_000023.10:g.48547320del , CM000685.1:g.48547320del	GRCh37
NC_000023.9:g.48432264del	NCBI36
NG_007877.1:g.10135del , LRG_125:g.10135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.447del
ENST00000698625.1:c.1203del	ENSP00000513844.1:p.Pro402ArgfsTer?
ENST00000698626.1:c.1203del	ENSP00000513845.1:p.Pro402ArgfsTer?
ENST00000698635.1:c.1203del	ENSP00000513850.1:p.Pro402ArgfsTer?
ENST00000376701.5:c.1203del MANE Select	ENSP00000365891.4:p.Pro402ArgfsTer?
ENST00000376701.4:c.1203del	ENSP00000365891.4:p.Pro402ArgfsTer?
ENST00000474174.1:n.447del
NM_000377.2:c.1203del , LRG_125t1:c.1203del	NP_000368.1:p.Pro402ArgfsTer?
XM_011543977.1:c.1047del	XP_011542279.1:p.Pro350ArgfsTer?
XM_011543977.2:c.1047del	XP_011542279.1:p.Pro350ArgfsTer?
XM_017029786.1:c.1203del	XP_016885275.1:p.Pro402ArgfsTer?
NM_000377.3:c.1203del MANE Select	NP_000368.1:p.Pro402ArgfsTer?