Canonical Allele Identifier: CA2087096567

Gene: VWA8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931520_41931522delinsCTG , CM000675.2:g.41931520_41931522delinsCTG	GRCh38
NC_000013.10:g.42505656_42505658delinsCTG , CM000675.1:g.42505656_42505658delinsCTG	GRCh37
NC_000013.9:g.41403656_41403658delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379310.8:c.241+18414_241+18416delinsCAG MANE Select	ENSP00000368612.3:n.241+18414_241+18416delinsCAG
ENST00000281496.6:c.241+18414_241+18416delinsCAG	ENSP00000281496.6:n.241+18414_241+18416delinsCAG
ENST00000379310.7:c.241+18414_241+18416delinsCAG	ENSP00000368612.3:n.241+18414_241+18416delinsCAG
NM_001009814.1:c.241+18414_241+18416delinsCAG	NP_001009814.1:n.241+18414_241+18416delinsCAG
NM_015058.1:c.241+18414_241+18416delinsCAG	NP_055873.1:n.241+18414_241+18416delinsCAG
XM_011535006.1:c.-48+18414_-48+18416delinsCAG	XP_011533308.1:n.-48+18414_-48+18416delinsCAG
XM_011535007.1:c.241+18414_241+18416delinsCAG	XP_011533309.1:n.241+18414_241+18416delinsCAG
XM_011535007.3:c.241+18414_241+18416delinsCAG	XP_011533309.1:n.241+18414_241+18416delinsCAG
XM_017020469.2:c.58+5793_58+5795delinsCAG	XP_016875958.1:n.58+5793_58+5795delinsCAG
XM_017020470.2:c.241+18414_241+18416delinsCAG	XP_016875959.1:n.241+18414_241+18416delinsCAG
XM_017020471.2:c.241+18414_241+18416delinsCAG	XP_016875960.1:n.241+18414_241+18416delinsCAG
XM_017020474.2:c.241+18414_241+18416delinsCAG	XP_016875963.1:n.241+18414_241+18416delinsCAG
XR_001749518.2:n.972+18414_972+18416delinsCAG
NM_015058.2:c.241+18414_241+18416delinsCAG MANE Select	NP_055873.1:n.241+18414_241+18416delinsCAG
NM_001009814.2:c.241+18414_241+18416delinsCAG	NP_001009814.1:n.241+18414_241+18416delinsCAG