Canonical Allele Identifier: CA2013874747
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023396_6023399delinsCAGA , CM000674.2:g.6023396_6023399delinsCAGA GRCh38
NC_000012.11:g.6132562_6132565delinsCAGA , CM000674.1:g.6132562_6132565delinsCAGA GRCh37
NC_000012.10:g.6002823_6002826delinsCAGA NCBI36
NG_009072.1:g.106272_106275delinsTCTG
NG_009072.2:g.106272_106275delinsTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3379+232_3379+235delinsTCTG MANE Select ENSP00000261405.5:n.3379+232_3379+235delinsTCTG
ENST00000261405.9:c.3379+232_3379+235delinsTCTG ENSP00000261405.5:n.3379+232_3379+235delinsTCTG
ENST00000538635.5:n.421-29465_421-29462delinsTCTG
NM_000552.3:c.3379+232_3379+235delinsTCTG NP_000543.2:n.3379+232_3379+235delinsTCTG
NM_000552.4:c.3379+232_3379+235delinsTCTG NP_000543.2:n.3379+232_3379+235delinsTCTG
NM_000552.5:c.3379+232_3379+235delinsTCTG MANE Select NP_000543.3:n.3379+232_3379+235delinsTCTG