Canonical Allele Identifier: CA2617232709

Gene: VWF

Linked Data

• gnomAD v4: 12-6058115-ATGGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058117_6058122del , CM000674.2:g.6058117_6058122del	GRCh38
NC_000012.11:g.6167283_6167288del , CM000674.1:g.6167283_6167288del	GRCh37
NC_000012.10:g.6037544_6037549del	NCBI36
NG_009072.1:g.71550_71555del
NG_009072.2:g.71550_71555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1534-77_1534-72del MANE Select	ENSP00000261405.5:n.1534-77_1534-72del
ENST00000261405.9:c.1534-77_1534-72del	ENSP00000261405.5:n.1534-77_1534-72del
ENST00000538635.5:n.420+52394_420+52399del
NM_000552.3:c.1534-77_1534-72del	NP_000543.2:n.1534-77_1534-72del
NM_000552.4:c.1534-77_1534-72del	NP_000543.2:n.1534-77_1534-72del
NM_000552.5:c.1534-77_1534-72del MANE Select	NP_000543.3:n.1534-77_1534-72del