Canonical Allele Identifier: CA2087096580

Gene: VWA8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931550_41931554delinsCTAAA , CM000675.2:g.41931550_41931554delinsCTAAA	GRCh38
NC_000013.10:g.42505686_42505690delinsCTAAA , CM000675.1:g.42505686_42505690delinsCTAAA	GRCh37
NC_000013.9:g.41403686_41403690delinsCTAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18382_241+18386delinsTTTAG MANE Select	ENSP00000368612.3:n.241+18382_241+18386de...
ENST00000281496.6:c.241+18382_241+18386delinsTTTAG	ENSP00000281496.6:n.241+18382_241+18386de...
ENST00000379310.7:c.241+18382_241+18386delinsTTTAG	ENSP00000368612.3:n.241+18382_241+18386de...
NM_001009814.1:c.241+18382_241+18386delinsTTTAG	NP_001009814.1:n.241+18382_241+18386delin...
NM_015058.1:c.241+18382_241+18386delinsTTTAG	NP_055873.1:n.241+18382_241+18386delinsTT...
XM_011535006.1:c.-48+18382_-48+18386delinsTTTAG	XP_011533308.1:n.-48+18382_-48+18386delin...
XM_011535007.1:c.241+18382_241+18386delinsTTTAG	XP_011533309.1:n.241+18382_241+18386delin...
XM_011535007.3:c.241+18382_241+18386delinsTTTAG	XP_011533309.1:n.241+18382_241+18386delin...
XM_017020469.2:c.58+5761_58+5765delinsTTTAG	XP_016875958.1:n.58+5761_58+5765delinsTTT...
XM_017020470.2:c.241+18382_241+18386delinsTTTAG	XP_016875959.1:n.241+18382_241+18386delin...
XM_017020471.2:c.241+18382_241+18386delinsTTTAG	XP_016875960.1:n.241+18382_241+18386delin...
XM_017020474.2:c.241+18382_241+18386delinsTTTAG	XP_016875963.1:n.241+18382_241+18386delin...
XR_001749518.2:n.972+18382_972+18386delinsTTTAG
NM_015058.2:c.241+18382_241+18386delinsTTTAG MANE Select	NP_055873.1:n.241+18382_241+18386delinsTT...
NM_001009814.2:c.241+18382_241+18386delinsTTTAG	NP_001009814.1:n.241+18382_241+18386delin...