Canonical Allele Identifier: CA690482988

Gene: VWF

Linked Data

• dbSNP Id: rs1359391867
• MyVariant Identifiers: chr12:g.6133066_6133068del (hg19) ; chr12:g.6023900_6023902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023902_6023904del , CM000674.2:g.6023902_6023904del	GRCh38
NC_000012.11:g.6133068_6133070del , CM000674.1:g.6133068_6133070del	GRCh37
NC_000012.10:g.6003329_6003331del	NCBI36
NG_009072.1:g.105769_105771del
NG_009072.2:g.105769_105771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3223-115_3223-113del MANE Select	ENSP00000261405.5:n.3223-115_3223-113del
ENST00000261405.9:c.3223-115_3223-113del	ENSP00000261405.5:n.3223-115_3223-113del
ENST00000538635.5:n.421-29968_421-29966del
NM_000552.3:c.3223-115_3223-113del	NP_000543.2:n.3223-115_3223-113del
NM_000552.4:c.3223-115_3223-113del	NP_000543.2:n.3223-115_3223-113del
NM_000552.5:c.3223-115_3223-113del MANE Select	NP_000543.3:n.3223-115_3223-113del