Canonical Allele Identifier: CA2087096604
Gene: VWA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.41931592_41931593delinsAC , CM000675.2:g.41931592_41931593delinsAC GRCh38
NC_000013.10:g.42505728_42505729delinsAC , CM000675.1:g.42505728_42505729delinsAC GRCh37
NC_000013.9:g.41403728_41403729delinsAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379310.8:c.241+18343_241+18344delinsGT MANE Select ENSP00000368612.3:n.241+18343_241+18344delinsGT
ENST00000281496.6:c.241+18343_241+18344delinsGT ENSP00000281496.6:n.241+18343_241+18344delinsGT
ENST00000379310.7:c.241+18343_241+18344delinsGT ENSP00000368612.3:n.241+18343_241+18344delinsGT
NM_001009814.1:c.241+18343_241+18344delinsGT NP_001009814.1:n.241+18343_241+18344delinsGT
NM_015058.1:c.241+18343_241+18344delinsGT NP_055873.1:n.241+18343_241+18344delinsGT
XM_011535006.1:c.-48+18343_-48+18344delinsGT XP_011533308.1:n.-48+18343_-48+18344delinsGT
XM_011535007.1:c.241+18343_241+18344delinsGT XP_011533309.1:n.241+18343_241+18344delinsGT
XM_011535007.3:c.241+18343_241+18344delinsGT XP_011533309.1:n.241+18343_241+18344delinsGT
XM_017020469.2:c.58+5722_58+5723delinsGT XP_016875958.1:n.58+5722_58+5723delinsGT
XM_017020470.2:c.241+18343_241+18344delinsGT XP_016875959.1:n.241+18343_241+18344delinsGT
XM_017020471.2:c.241+18343_241+18344delinsGT XP_016875960.1:n.241+18343_241+18344delinsGT
XM_017020474.2:c.241+18343_241+18344delinsGT XP_016875963.1:n.241+18343_241+18344delinsGT
XR_001749518.2:n.972+18343_972+18344delinsGT
NM_015058.2:c.241+18343_241+18344delinsGT MANE Select NP_055873.1:n.241+18343_241+18344delinsGT
NM_001009814.2:c.241+18343_241+18344delinsGT NP_001009814.1:n.241+18343_241+18344delinsGT