Canonical Allele Identifier: CA2087096569
Gene: VWA8 HGNC NCBI

Linked Data

dbSNP Id: rs1877119662

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.41931522_41931523del , CM000675.2:g.41931522_41931523del GRCh38
NC_000013.10:g.42505658_42505659del , CM000675.1:g.42505658_42505659del GRCh37
NC_000013.9:g.41403658_41403659del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379310.8:c.241+18414_241+18415del MANE Select ENSP00000368612.3:n.241+18414_241+18415del
ENST00000281496.6:c.241+18414_241+18415del ENSP00000281496.6:n.241+18414_241+18415del
ENST00000379310.7:c.241+18414_241+18415del ENSP00000368612.3:n.241+18414_241+18415del
NM_001009814.1:c.241+18414_241+18415del NP_001009814.1:n.241+18414_241+18415del
NM_015058.1:c.241+18414_241+18415del NP_055873.1:n.241+18414_241+18415del
XM_011535006.1:c.-48+18414_-48+18415del XP_011533308.1:n.-48+18414_-48+18415del
XM_011535007.1:c.241+18414_241+18415del XP_011533309.1:n.241+18414_241+18415del
XM_011535007.3:c.241+18414_241+18415del XP_011533309.1:n.241+18414_241+18415del
XM_017020469.2:c.58+5793_58+5794del XP_016875958.1:n.58+5793_58+5794del
XM_017020470.2:c.241+18414_241+18415del XP_016875959.1:n.241+18414_241+18415del
XM_017020471.2:c.241+18414_241+18415del XP_016875960.1:n.241+18414_241+18415del
XM_017020474.2:c.241+18414_241+18415del XP_016875963.1:n.241+18414_241+18415del
XR_001749518.2:n.972+18414_972+18415del
NM_015058.2:c.241+18414_241+18415del MANE Select NP_055873.1:n.241+18414_241+18415del
NM_001009814.2:c.241+18414_241+18415del NP_001009814.1:n.241+18414_241+18415del