Canonical Allele Identifier: CA603483194
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs370498560
gnomAD v2: 12-6167291-T-TA
gnomAD v3: 12-6058125-T-TA
gnomAD v4: 12-6058125-T-TA
MyVariant Identifiers: chr12:g.6167292_6167293insA (hg19) chr12:g.6167291_6167292insA (hg19) chr12:g.6058126_6058127insA (hg38) chr12:g.6058125_6058126insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058137dup , CM000674.2:g.6058137dup GRCh38
NC_000012.11:g.6167303dup , CM000674.1:g.6167303dup GRCh37
NC_000012.10:g.6037564dup NCBI36
NG_009072.1:g.71545dup
NG_009072.2:g.71545dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-82dup MANE Select ENSP00000261405.5:n.1534-82dup
ENST00000261405.9:c.1534-82dup ENSP00000261405.5:n.1534-82dup
ENST00000538635.5:n.420+52389dup
NM_000552.3:c.1534-82dup NP_000543.2:n.1534-82dup
NM_000552.4:c.1534-82dup NP_000543.2:n.1534-82dup
NM_000552.5:c.1534-82dup MANE Select NP_000543.3:n.1534-82dup
Search 100 bp 5'
Search 100 bp 3'