Canonical Allele Identifier: CA249008919

Gene: VWA8

Linked Data

• dbSNP Id: rs34062540
• gnomAD v2: 13-42505518-A-AG
• gnomAD v3: 13-41931382-A-AG
• gnomAD v4: 13-41931382-A-AG
• MyVariant Identifiers: chr13:g.42505518_42505519insG (hg19) ; chr13:g.41931382_41931383insG (hg38)

Genomic Alleles

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

Transcript Alleles

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