Canonical Allele Identifier: CA2617232738

Gene: VWF

Linked Data

• gnomAD v4: 12-6058137-AGTTCCCCGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058139_6058149del , CM000674.2:g.6058139_6058149del	GRCh38
NC_000012.11:g.6167305_6167315del , CM000674.1:g.6167305_6167315del	GRCh37
NC_000012.10:g.6037566_6037576del	NCBI36
NG_009072.1:g.71523_71533del
NG_009072.2:g.71523_71533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1534-104_1534-94del MANE Select	ENSP00000261405.5:n.1534-104_1534-94del
ENST00000261405.9:c.1534-104_1534-94del	ENSP00000261405.5:n.1534-104_1534-94del
ENST00000538635.5:n.420+52367_420+52377del
NM_000552.3:c.1534-104_1534-94del	NP_000543.2:n.1534-104_1534-94del
NM_000552.4:c.1534-104_1534-94del	NP_000543.2:n.1534-104_1534-94del
NM_000552.5:c.1534-104_1534-94del MANE Select	NP_000543.3:n.1534-104_1534-94del