Canonical Allele Identifier: CA2693644729

Gene: WAS

Linked Data

• gnomAD v4: X-48688825-G-GCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688828_48688829insCCCCCC , CM000685.2:g.48688828_48688829insCCCCCC	GRCh38
NC_000023.10:g.48547217_48547218insCCCCCC , CM000685.1:g.48547217_48547218insCCCCCC	GRCh37
NC_000023.9:g.48432161_48432162insCCCCCC	NCBI36
NG_007877.1:g.10032_10033insCCCCCC , LRG_125:g.10032_10033insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.344_345insCCCCCC
ENST00000698625.1:c.1100_1101insCCCCCC	ENSP00000513844.1:p.Pro367_Pro368insProPro
ENST00000698626.1:c.1100_1101insCCCCCC	ENSP00000513845.1:p.Pro367_Pro368insProPro
ENST00000698635.1:c.1100_1101insCCCCCC	ENSP00000513850.1:p.Pro367_Pro368insProPro
ENST00000376701.5:c.1100_1101insCCCCCC MANE Select	ENSP00000365891.4:p.Pro367_Pro368insProPro
ENST00000376701.4:c.1100_1101insCCCCCC	ENSP00000365891.4:p.Pro367_Pro368insProPro
ENST00000474174.1:n.344_345insCCCCCC
NM_000377.2:c.1100_1101insCCCCCC , LRG_125t1:c.1100_1101insCCCCCC	NP_000368.1:p.Pro367_Pro368insProPro
XM_011543977.1:c.944_945insCCCCCC	XP_011542279.1:p.Pro315_Pro316insProPro
XM_011543977.2:c.944_945insCCCCCC	XP_011542279.1:p.Pro315_Pro316insProPro
XM_017029786.1:c.1100_1101insCCCCCC	XP_016885275.1:p.Pro367_Pro368insProPro
NM_000377.3:c.1100_1101insCCCCCC MANE Select	NP_000368.1:p.Pro367_Pro368insProPro