Canonical Allele Identifier: CA2617231095
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6031575-A-AACCCTGGGACCTTTCGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031576_6031577insCCCTGGGACCTTTCGGA , CM000674.2:g.6031576_6031577insCCCTGGGACCTTTCGGA GRCh38
NC_000012.11:g.6140742_6140743insCCCTGGGACCTTTCGGA , CM000674.1:g.6140742_6140743insCCCTGGGACCTTTCGGA GRCh37
NC_000012.10:g.6011003_6011004insCCCTGGGACCTTTCGGA NCBI36
NG_009072.1:g.98095_98096insCCGAAAGGTCCCAGGGT
NG_009072.2:g.98095_98096insCCGAAAGGTCCCAGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2688_2689insCCGAAAGGTCCCAGGGT MANE Select ENSP00000261405.5:p.Tyr897ProfsTer18
ENST00000261405.9:c.2688_2689insCCGAAAGGTCCCAGGGT ENSP00000261405.5:p.Tyr897ProfsTer18
ENST00000538635.5:n.421-37642_421-37641insCCGAAAGGTCCCAGGGT
NM_000552.3:c.2688_2689insCCGAAAGGTCCCAGGGT NP_000543.2:p.Tyr897ProfsTer18
NM_000552.4:c.2688_2689insCCGAAAGGTCCCAGGGT NP_000543.2:p.Tyr897ProfsTer18
NM_000552.5:c.2688_2689insCCGAAAGGTCCCAGGGT MANE Select NP_000543.3:p.Tyr897ProfsTer18
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