Canonical Allele Identifier: CA1139667533

Gene: WAS

Linked Data

• ClinVar Variation Id: 972434
• ClinVar RCV Id: RCV001248465
• dbSNP Id: rs2062430786

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689000_48689005delinsGCCTGG , CM000685.2:g.48689000_48689005delinsGCCTGG	GRCh38
NC_000023.10:g.48547389_48547394delinsGCCTGG , CM000685.1:g.48547389_48547394delinsGCCTGG	GRCh37
NC_000023.9:g.48432333_48432338delinsGCCTGG	NCBI36
NG_007877.1:g.10204_10209delinsGCCTGG , LRG_125:g.10204_10209delinsGCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.516_521delinsGCCTGG
ENST00000698625.1:c.1272_1277delinsGCCTGG	ENSP00000513844.1:p.Leu425_Ala426delinsProGly
ENST00000698626.1:c.1272_1277delinsGCCTGG	ENSP00000513845.1:p.Leu425_Ala426delinsProGly
ENST00000698635.1:c.1272_1277delinsGCCTGG	ENSP00000513850.1:p.Leu425_Ala426delinsProGly
ENST00000376701.5:c.1272_1277delinsGCCTGG MANE Select	ENSP00000365891.4:p.Leu425_Ala426delinsProGly
ENST00000376701.4:c.1272_1277delinsGCCTGG	ENSP00000365891.4:p.Leu425_Ala426delinsProGly
NM_000377.2:c.1272_1277delinsGCCTGG , LRG_125t1:c.1272_1277delinsGCCTGG	NP_000368.1:p.Leu425_Ala426delinsProGly
XM_011543977.1:c.1116_1121delinsGCCTGG	XP_011542279.1:p.Leu373_Ala374delinsProGly
XM_011543977.2:c.1116_1121delinsGCCTGG	XP_011542279.1:p.Leu373_Ala374delinsProGly
XM_017029786.1:c.1272_1277delinsGCCTGG	XP_016885275.1:p.Leu425_Ala426delinsProGly
NM_000377.3:c.1272_1277delinsGCCTGG MANE Select	NP_000368.1:p.Leu425_Ala426delinsProGly