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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
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Canonical Allele Identifier:
CA2617230148
Gene: VWF
HGNC
NCBI
Linked Data
gnomAD v4:
12-6021869-T-TC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6021870dup , CM000674.2:g.6021870dup
GRCh38
NC_000012.11:g.6131036dup , CM000674.1:g.6131036dup
GRCh37
NC_000012.10:g.6001297dup
NCBI36
NG_009072.1:g.107801dup
NG_009072.2:g.107801dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.3674+30dup
MANE Select
ENSP00000261405.5:n.3674+30dup
ENST00000261405.9:c.3674+30dup
ENSP00000261405.5:n.3674+30dup
ENST00000538635.5:n.421-27936dup
ENST00000539641.1:n.27+30dup
NM_000552.3:c.3674+30dup
NP_000543.2:n.3674+30dup
NM_000552.4:c.3674+30dup
NP_000543.2:n.3674+30dup
NM_000552.5:c.3674+30dup
MANE Select
NP_000543.3:n.3674+30dup
Search 100 bp 5'
Search 100 bp 3'