Canonical Allele Identifier: CA2006062829
Gene: VWA5A HGNC NCBI

Linked Data

dbSNP Id: rs1860828074
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124146696del , CM000673.2:g.124146696del GRCh38
NC_000011.9:g.124017403del , CM000673.1:g.124017403del GRCh37
NC_000011.8:g.123522613del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000456829.7:c.*751del MANE Select ENSP00000407726.2:n.*751del
ENST00000392748.5:c.*751del ENSP00000376504.1:n.*751del
ENST00000456829.6:c.*751del ENSP00000407726.2:n.*751del
NM_001130142.1:c.*751del NP_001123614.1:n.*751del
NM_014622.4:c.*751del NP_055437.2:n.*751del
XM_011542828.1:c.*751del XP_011541130.1:n.*751del
XM_011542828.2:c.*751del XP_011541130.1:n.*751del
NM_001130142.2:c.*751del MANE Select NP_001123614.1:n.*751del
NM_014622.5:c.*751del NP_055437.2:n.*751del
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