Canonical Allele Identifier: CA2575053845

Gene: VWF

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016278_6016279insGGACACCCTGCGGCT , CM000674.2:g.6016278_6016279insGGACACCCTGCGGCT	GRCh38
NC_000012.11:g.6125444_6125445insGGACACCCTGCGGCT , CM000674.1:g.6125444_6125445insGGACACCCTGCGGCT	GRCh37
NC_000012.10:g.5995705_5995706insGGACACCCTGCGGCT	NCBI36
NG_009072.1:g.113400_113401insGGTGTCCAGCCGCAG
NG_009072.2:g.113400_113401insGGTGTCCAGCCGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5312-39_5312-38insGGTGTCCAGCCGCAG MANE Select	ENSP00000261405.5:n.5312-39_5312-38insGGTGTCCAGCCGCAG
ENST00000261405.9:c.5312-39_5312-38insGGTGTCCAGCCGCAG	ENSP00000261405.5:n.5312-39_5312-38insGGTGTCCAGCCGCAG
ENST00000538635.5:n.421-22337_421-22336insGGTGTCCAGCCGCAG
NM_000552.3:c.5312-39_5312-38insGGTGTCCAGCCGCAG	NP_000543.2:n.5312-39_5312-38insGGTGTCCAGCCGCAG
NM_000552.4:c.5312-39_5312-38insGGTGTCCAGCCGCAG	NP_000543.2:n.5312-39_5312-38insGGTGTCCAGCCGCAG
NM_000552.5:c.5312-39_5312-38insGGTGTCCAGCCGCAG MANE Select	NP_000543.3:n.5312-39_5312-38insGGTGTCCAGCCGCAG