×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2428353402
Gene: WAS
HGNC
NCBI
Linked Data
dbSNP Id:
rs2062400750
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48681718_48681725del , CM000685.2:g.48681718_48681725del
GRCh38
NC_000023.10:g.48540107_48540114del , CM000685.1:g.48540107_48540114del
GRCh37
NC_000023.9:g.48425051_48425058del
NCBI36
NG_007877.1:g.2922_2929del , LRG_125:g.2922_2929del
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-2102_-34-2095del
ENSP00000513844.1:n.-34-2102_-34-2095del
ENST00000450772.5:c.-130-1550_-130-1543del
ENSP00000410537.1:n.-130-1550_-130-1543del
Search 100 bp 5'
Search 100 bp 3'