Canonical Allele Identifier: CA2013849746
Gene: VWF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968906_5968909delinsAGCG , CM000674.2:g.5968906_5968909delinsAGCG GRCh38
NC_000012.11:g.6078072_6078075delinsAGCG , CM000674.1:g.6078072_6078075delinsAGCG GRCh37
NC_000012.10:g.5948333_5948336delinsAGCG NCBI36
NG_009072.1:g.160762_160765delinsCGCT
NG_009072.2:g.160762_160765delinsCGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7729+302_7729+305delinsCGCT MANE Select ENSP00000261405.5:n.7729+302_7729+305delinsCGCT
ENST00000261405.9:c.7729+302_7729+305delinsCGCT ENSP00000261405.5:n.7729+302_7729+305delinsCGCT
NM_000552.3:c.7729+302_7729+305delinsCGCT NP_000543.2:n.7729+302_7729+305delinsCGCT
NM_000552.4:c.7729+302_7729+305delinsCGCT NP_000543.2:n.7729+302_7729+305delinsCGCT
NM_000552.5:c.7729+302_7729+305delinsCGCT MANE Select NP_000543.3:n.7729+302_7729+305delinsCGCT
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