Canonical Allele Identifier: CA2087096601

Gene: VWA8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931584_41931585delinsCA , CM000675.2:g.41931584_41931585delinsCA	GRCh38
NC_000013.10:g.42505720_42505721delinsCA , CM000675.1:g.42505720_42505721delinsCA	GRCh37
NC_000013.9:g.41403720_41403721delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18351_241+18352delinsTG MANE Select	ENSP00000368612.3:n.241+18351_241+18352de...
ENST00000281496.6:c.241+18351_241+18352delinsTG	ENSP00000281496.6:n.241+18351_241+18352de...
ENST00000379310.7:c.241+18351_241+18352delinsTG	ENSP00000368612.3:n.241+18351_241+18352de...
NM_001009814.1:c.241+18351_241+18352delinsTG	NP_001009814.1:n.241+18351_241+18352delin...
NM_015058.1:c.241+18351_241+18352delinsTG	NP_055873.1:n.241+18351_241+18352delinsTG...
XM_011535006.1:c.-48+18351_-48+18352delinsTG	XP_011533308.1:n.-48+18351_-48+18352delin...
XM_011535007.1:c.241+18351_241+18352delinsTG	XP_011533309.1:n.241+18351_241+18352delin...
XM_011535007.3:c.241+18351_241+18352delinsTG	XP_011533309.1:n.241+18351_241+18352delin...
XM_017020469.2:c.58+5730_58+5731delinsTG	XP_016875958.1:n.58+5730_58+5731delinsTG
XM_017020470.2:c.241+18351_241+18352delinsTG	XP_016875959.1:n.241+18351_241+18352delin...
XM_017020471.2:c.241+18351_241+18352delinsTG	XP_016875960.1:n.241+18351_241+18352delin...
XM_017020474.2:c.241+18351_241+18352delinsTG	XP_016875963.1:n.241+18351_241+18352delin...
XR_001749518.2:n.972+18351_972+18352delinsTG
NM_015058.2:c.241+18351_241+18352delinsTG MANE Select	NP_055873.1:n.241+18351_241+18352delinsTG...
NM_001009814.2:c.241+18351_241+18352delinsTG	NP_001009814.1:n.241+18351_241+18352delin...