Canonical Allele Identifier: CA698143132

Gene: VWA8

Linked Data

• dbSNP Id: rs1237300984
• MyVariant Identifiers: chr13:g.42505687_42505690del (hg19) ; chr13:g.41931551_41931554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931552_41931555del , CM000675.2:g.41931552_41931555del	GRCh38
NC_000013.10:g.42505688_42505691del , CM000675.1:g.42505688_42505691del	GRCh37
NC_000013.9:g.41403688_41403691del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18382_241+18385del MANE Select	ENSP00000368612.3:n.241+18382_241+18385de...
ENST00000281496.6:c.241+18382_241+18385del	ENSP00000281496.6:n.241+18382_241+18385de...
ENST00000379310.7:c.241+18382_241+18385del	ENSP00000368612.3:n.241+18382_241+18385de...
NM_001009814.1:c.241+18382_241+18385del	NP_001009814.1:n.241+18382_241+18385del
NM_015058.1:c.241+18382_241+18385del	NP_055873.1:n.241+18382_241+18385del
XM_011535006.1:c.-48+18382_-48+18385del	XP_011533308.1:n.-48+18382_-48+18385del
XM_011535007.1:c.241+18382_241+18385del	XP_011533309.1:n.241+18382_241+18385del
XM_011535007.3:c.241+18382_241+18385del	XP_011533309.1:n.241+18382_241+18385del
XM_017020469.2:c.58+5761_58+5764del	XP_016875958.1:n.58+5761_58+5764del
XM_017020470.2:c.241+18382_241+18385del	XP_016875959.1:n.241+18382_241+18385del
XM_017020471.2:c.241+18382_241+18385del	XP_016875960.1:n.241+18382_241+18385del
XM_017020474.2:c.241+18382_241+18385del	XP_016875963.1:n.241+18382_241+18385del
XR_001749518.2:n.972+18382_972+18385del
NM_015058.2:c.241+18382_241+18385del MANE Select	NP_055873.1:n.241+18382_241+18385del
NM_001009814.2:c.241+18382_241+18385del	NP_001009814.1:n.241+18382_241+18385del