Canonical Allele Identifier: CA698143056

Gene: VWA8

Linked Data

• dbSNP Id: rs1555244421
• gnomAD v3: 13-41931383-G-GGAA
• gnomAD v4: 13-41931383-G-GGAA
• MyVariant Identifiers: chr13:g.42505519_42505520insGAA (hg19) ; chr13:g.41931383_41931384insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931383_41931384insGAA , CM000675.2:g.41931383_41931384insGAA	GRCh38
NC_000013.10:g.42505519_42505520insGAA , CM000675.1:g.42505519_42505520insGAA	GRCh37
NC_000013.9:g.41403519_41403520insGAA	NCBI36

Transcript Alleles

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