Canonical Allele Identifier: CA2087096503

Gene: VWA8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931383_41931384delinsGA , CM000675.2:g.41931383_41931384delinsGA	GRCh38
NC_000013.10:g.42505519_42505520delinsGA , CM000675.1:g.42505519_42505520delinsGA	GRCh37
NC_000013.9:g.41403519_41403520delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18552_241+18553delinsTC MANE Select	ENSP00000368612.3:n.241+18552_241+18553delinsTC
ENST00000281496.6:c.241+18552_241+18553delinsTC	ENSP00000281496.6:n.241+18552_241+18553delinsTC
ENST00000379310.7:c.241+18552_241+18553delinsTC	ENSP00000368612.3:n.241+18552_241+18553delinsTC
NM_001009814.1:c.241+18552_241+18553delinsTC	NP_001009814.1:n.241+18552_241+18553delinsTC
NM_015058.1:c.241+18552_241+18553delinsTC	NP_055873.1:n.241+18552_241+18553delinsTC
XM_011535006.1:c.-48+18552_-48+18553delinsTC	XP_011533308.1:n.-48+18552_-48+18553delinsTC
XM_011535007.1:c.241+18552_241+18553delinsTC	XP_011533309.1:n.241+18552_241+18553delinsTC
XM_011535007.3:c.241+18552_241+18553delinsTC	XP_011533309.1:n.241+18552_241+18553delinsTC
XM_017020469.2:c.58+5931_58+5932delinsTC	XP_016875958.1:n.58+5931_58+5932delinsTC
XM_017020470.2:c.241+18552_241+18553delinsTC	XP_016875959.1:n.241+18552_241+18553delinsTC
XM_017020471.2:c.241+18552_241+18553delinsTC	XP_016875960.1:n.241+18552_241+18553delinsTC
XM_017020474.2:c.241+18552_241+18553delinsTC	XP_016875963.1:n.241+18552_241+18553delinsTC
XR_001749518.2:n.972+18552_972+18553delinsTC
NM_015058.2:c.241+18552_241+18553delinsTC MANE Select	NP_055873.1:n.241+18552_241+18553delinsTC
NM_001009814.2:c.241+18552_241+18553delinsTC	NP_001009814.1:n.241+18552_241+18553delinsTC