Canonical Allele Identifier: CA2666656941

Gene: PROS1

Linked Data

• gnomAD v4: 3-93893042-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893043del , CM000665.2:g.93893043del	GRCh38
NC_000003.11:g.93611887del , CM000665.1:g.93611887del	GRCh37
NC_000003.10:g.95094577del	NCBI36
NG_009813.1:g.86048del , LRG_572:g.86048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1045del	ENSP00000330021.7:p.Trp349GlyfsTer3
ENST00000394236.9:c.1045del MANE Select	ENSP00000377783.3:p.Trp349GlyfsTer3
ENST00000407433.6:c.1000del	ENSP00000385794.2:p.Trp334GlyfsTer3
ENST00000647936.1:c.1045del	ENSP00000496822.1:p.Trp349GlyfsTer3
ENST00000648381.1:n.1213del
ENST00000648853.1:c.1003del	ENSP00000497262.1:p.Trp335GlyfsTer3
ENST00000649103.1:c.1144del	ENSP00000497962.1:n.1144del
ENST00000650591.1:c.1141del	ENSP00000497376.1:p.Trp381GlyfsTer3
ENST00000394236.7:c.1045del	ENSP00000377783.3:p.Trp349GlyfsTer3
ENST00000407433.5:c.652del	ENSP00000385794.1:p.Trp218GlyfsTer3
NM_000313.3:c.1045del , LRG_572t1:c.1045del	NP_000304.2:p.Trp349GlyfsTer3
NM_001314077.1:c.1141del , LRG_572t2:c.1141del	NP_001301006.1:p.Trp381GlyfsTer3
NM_000313.4:c.1045del MANE Select	NP_000304.2:p.Trp349GlyfsTer3
NM_001314077.2:c.1141del	NP_001301006.1:p.Trp381GlyfsTer3