Canonical Allele Identifier: CA690505871

Gene: VWF

Linked Data

• dbSNP Id: rs1340367122
• MyVariant Identifiers: chr12:g.6132563_6132565del (hg19) ; chr12:g.6023397_6023399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023401_6023403del , CM000674.2:g.6023401_6023403del	GRCh38
NC_000012.11:g.6132567_6132569del , CM000674.1:g.6132567_6132569del	GRCh37
NC_000012.10:g.6002828_6002830del	NCBI36
NG_009072.1:g.106272_106274del
NG_009072.2:g.106272_106274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+232_3379+234del MANE Select	ENSP00000261405.5:n.3379+232_3379+234del
ENST00000261405.9:c.3379+232_3379+234del	ENSP00000261405.5:n.3379+232_3379+234del
ENST00000538635.5:n.421-29465_421-29463del
NM_000552.3:c.3379+232_3379+234del	NP_000543.2:n.3379+232_3379+234del
NM_000552.4:c.3379+232_3379+234del	NP_000543.2:n.3379+232_3379+234del
NM_000552.5:c.3379+232_3379+234del MANE Select	NP_000543.3:n.3379+232_3379+234del