Canonical Allele Identifier: CA2087096587
Gene: VWA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.41931561_41931562delinsGT , CM000675.2:g.41931561_41931562delinsGT GRCh38
NC_000013.10:g.42505697_42505698delinsGT , CM000675.1:g.42505697_42505698delinsGT GRCh37
NC_000013.9:g.41403697_41403698delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379310.8:c.241+18374_241+18375delinsAC MANE Select ENSP00000368612.3:n.241+18374_241+18375de...
ENST00000281496.6:c.241+18374_241+18375delinsAC ENSP00000281496.6:n.241+18374_241+18375de...
ENST00000379310.7:c.241+18374_241+18375delinsAC ENSP00000368612.3:n.241+18374_241+18375de...
NM_001009814.1:c.241+18374_241+18375delinsAC NP_001009814.1:n.241+18374_241+18375delin...
NM_015058.1:c.241+18374_241+18375delinsAC NP_055873.1:n.241+18374_241+18375delinsAC...
XM_011535006.1:c.-48+18374_-48+18375delinsAC XP_011533308.1:n.-48+18374_-48+18375delin...
XM_011535007.1:c.241+18374_241+18375delinsAC XP_011533309.1:n.241+18374_241+18375delin...
XM_011535007.3:c.241+18374_241+18375delinsAC XP_011533309.1:n.241+18374_241+18375delin...
XM_017020469.2:c.58+5753_58+5754delinsAC XP_016875958.1:n.58+5753_58+5754delinsAC
XM_017020470.2:c.241+18374_241+18375delinsAC XP_016875959.1:n.241+18374_241+18375delin...
XM_017020471.2:c.241+18374_241+18375delinsAC XP_016875960.1:n.241+18374_241+18375delin...
XM_017020474.2:c.241+18374_241+18375delinsAC XP_016875963.1:n.241+18374_241+18375delin...
XR_001749518.2:n.972+18374_972+18375delinsAC
NM_015058.2:c.241+18374_241+18375delinsAC MANE Select NP_055873.1:n.241+18374_241+18375delinsAC...
NM_001009814.2:c.241+18374_241+18375delinsAC NP_001009814.1:n.241+18374_241+18375delin...