Canonical Allele Identifier: CA2013874732

Gene: VWF

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023346_6023350delinsACTTC , CM000674.2:g.6023346_6023350delinsACTTC	GRCh38
NC_000012.11:g.6132512_6132516delinsACTTC , CM000674.1:g.6132512_6132516delinsACTTC	GRCh37
NC_000012.10:g.6002773_6002777delinsACTTC	NCBI36
NG_009072.1:g.106321_106325delinsGAAGT
NG_009072.2:g.106321_106325delinsGAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+281_3379+285delinsGAAGT MANE Select	ENSP00000261405.5:n.3379+281_3379+285delinsGAAGT
ENST00000261405.9:c.3379+281_3379+285delinsGAAGT	ENSP00000261405.5:n.3379+281_3379+285delinsGAAGT
ENST00000538635.5:n.421-29416_421-29412delinsGAAGT
NM_000552.3:c.3379+281_3379+285delinsGAAGT	NP_000543.2:n.3379+281_3379+285delinsGAAGT
NM_000552.4:c.3379+281_3379+285delinsGAAGT	NP_000543.2:n.3379+281_3379+285delinsGAAGT
NM_000552.5:c.3379+281_3379+285delinsGAAGT MANE Select	NP_000543.3:n.3379+281_3379+285delinsGAAGT