Canonical Allele Identifier: CA2617229968
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6018383-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018387dup , CM000674.2:g.6018387dup GRCh38
NC_000012.11:g.6127553dup , CM000674.1:g.6127553dup GRCh37
NC_000012.10:g.5997814dup NCBI36
NG_009072.1:g.111287dup
NG_009072.2:g.111287dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.5034dup MANE Select ENSP00000261405.5:p.Thr1679HisfsTer7
ENST00000261405.9:c.5034dup ENSP00000261405.5:p.Thr1679HisfsTer7
ENST00000538635.5:n.421-24450dup
NM_000552.3:c.5034dup NP_000543.2:p.Thr1679HisfsTer7
NM_000552.4:c.5034dup NP_000543.2:p.Thr1679HisfsTer7
NM_000552.5:c.5034dup MANE Select NP_000543.3:p.Thr1679HisfsTer7
Search 100 bp 5'
Search 100 bp 3'