Canonical Allele Identifier: CA2617232674

Gene: VWF

Linked Data

• gnomAD v4: 12-6057971-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6057972_6057973del , CM000674.2:g.6057972_6057973del	GRCh38
NC_000012.11:g.6167138_6167139del , CM000674.1:g.6167138_6167139del	GRCh37
NC_000012.10:g.6037399_6037400del	NCBI36
NG_009072.1:g.71698_71699del
NG_009072.2:g.71698_71699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1605_1606del MANE Select	ENSP00000261405.5:p.Leu536TyrfsTer?
ENST00000261405.9:c.1605_1606del	ENSP00000261405.5:p.Leu536TyrfsTer?
ENST00000538635.5:n.420+52542_420+52543del
NM_000552.3:c.1605_1606del	NP_000543.2:p.Leu536TyrfsTer?
NM_000552.4:c.1605_1606del	NP_000543.2:p.Leu536TyrfsTer?
NM_000552.5:c.1605_1606del MANE Select	NP_000543.3:p.Leu536TyrfsTer?