Canonical Allele Identifier: CA2617231112

Gene: VWF

Linked Data

• gnomAD v4: 12-6031616-CCACTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031618_6031623del , CM000674.2:g.6031618_6031623del	GRCh38
NC_000012.11:g.6140784_6140789del , CM000674.1:g.6140784_6140789del	GRCh37
NC_000012.10:g.6011045_6011050del	NCBI36
NG_009072.1:g.98049_98054del
NG_009072.2:g.98049_98054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2686-44_2686-39del MANE Select	ENSP00000261405.5:n.2686-44_2686-39del
ENST00000261405.9:c.2686-44_2686-39del	ENSP00000261405.5:n.2686-44_2686-39del
ENST00000538635.5:n.421-37688_421-37683del
NM_000552.3:c.2686-44_2686-39del	NP_000543.2:n.2686-44_2686-39del
NM_000552.4:c.2686-44_2686-39del	NP_000543.2:n.2686-44_2686-39del
NM_000552.5:c.2686-44_2686-39del MANE Select	NP_000543.3:n.2686-44_2686-39del