Canonical Allele Identifier: CA2617231118

Gene: VWF

Linked Data

• gnomAD v4: 12-6031625-CTCACCAGACCAGAAGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031627_6031643del , CM000674.2:g.6031627_6031643del	GRCh38
NC_000012.11:g.6140793_6140809del , CM000674.1:g.6140793_6140809del	GRCh37
NC_000012.10:g.6011054_6011070del	NCBI36
NG_009072.1:g.98029_98045del
NG_009072.2:g.98029_98045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2686-64_2686-48del MANE Select	ENSP00000261405.5:n.2686-64_2686-48del
ENST00000261405.9:c.2686-64_2686-48del	ENSP00000261405.5:n.2686-64_2686-48del
ENST00000538635.5:n.421-37708_421-37692del
NM_000552.3:c.2686-64_2686-48del	NP_000543.2:n.2686-64_2686-48del
NM_000552.4:c.2686-64_2686-48del	NP_000543.2:n.2686-64_2686-48del
NM_000552.5:c.2686-64_2686-48del MANE Select	NP_000543.3:n.2686-64_2686-48del