Canonical Allele Identifier: CA232298123

Gene: VWF

Linked Data

• dbSNP Id: rs869122862
• MyVariant Identifiers: chr12:g.6133059_6133060insG (hg19) ; chr12:g.6023893_6023894insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023893_6023894insG , CM000674.2:g.6023893_6023894insG	GRCh38
NC_000012.11:g.6133059_6133060insG , CM000674.1:g.6133059_6133060insG	GRCh37
NC_000012.10:g.6003320_6003321insG	NCBI36
NG_009072.1:g.105777_105778insC
NG_009072.2:g.105777_105778insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3223-107_3223-106insC MANE Select	ENSP00000261405.5:n.3223-107_3223-106insC
ENST00000261405.9:c.3223-107_3223-106insC	ENSP00000261405.5:n.3223-107_3223-106insC
ENST00000538635.5:n.421-29960_421-29959insC
NM_000552.3:c.3223-107_3223-106insC	NP_000543.2:n.3223-107_3223-106insC
NM_000552.4:c.3223-107_3223-106insC	NP_000543.2:n.3223-107_3223-106insC
NM_000552.5:c.3223-107_3223-106insC MANE Select	NP_000543.3:n.3223-107_3223-106insC