Canonical Allele Identifier: CA2617231216

Gene: VWF

Linked Data

• gnomAD v4: 12-6031718-CTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031724_6031727del , CM000674.2:g.6031724_6031727del	GRCh38
NC_000012.11:g.6140890_6140893del , CM000674.1:g.6140890_6140893del	GRCh37
NC_000012.10:g.6011151_6011154del	NCBI36
NG_009072.1:g.97949_97952del
NG_009072.2:g.97949_97952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2686-144_2686-141del MANE Select	ENSP00000261405.5:n.2686-144_2686-141del
ENST00000261405.9:c.2686-144_2686-141del	ENSP00000261405.5:n.2686-144_2686-141del
ENST00000538635.5:n.421-37788_421-37785del
NM_000552.3:c.2686-144_2686-141del	NP_000543.2:n.2686-144_2686-141del
NM_000552.4:c.2686-144_2686-141del	NP_000543.2:n.2686-144_2686-141del
NM_000552.5:c.2686-144_2686-141del MANE Select	NP_000543.3:n.2686-144_2686-141del