Canonical Allele Identifier: CA2617232778
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6058170-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058174del , CM000674.2:g.6058174del GRCh38
NC_000012.11:g.6167340del , CM000674.1:g.6167340del GRCh37
NC_000012.10:g.6037601del NCBI36
NG_009072.1:g.71500del
NG_009072.2:g.71500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-127del MANE Select ENSP00000261405.5:n.1534-127del
ENST00000261405.9:c.1534-127del ENSP00000261405.5:n.1534-127del
ENST00000538635.5:n.420+52344del
NM_000552.3:c.1534-127del NP_000543.2:n.1534-127del
NM_000552.4:c.1534-127del NP_000543.2:n.1534-127del
NM_000552.5:c.1534-127del MANE Select NP_000543.3:n.1534-127del
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