Canonical Allele Identifier: CA2586972707
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900820_93900824del , CM000665.2:g.93900820_93900824del GRCh38
NC_000003.11:g.93619664_93619668del , CM000665.1:g.93619664_93619668del GRCh37
NC_000003.10:g.95102354_95102358del NCBI36
NG_009813.1:g.78272_78276del , LRG_572:g.78272_78276del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.712_716del ENSP00000330021.7:p.Ser238ValfsTer3
ENST00000394236.9:c.712_716del MANE Select ENSP00000377783.3:p.Ser238ValfsTer3
ENST00000407433.6:c.667_671del ENSP00000385794.2:p.Ser223ValfsTer3
ENST00000647936.1:c.712_716del ENSP00000496822.1:p.Ser238ValfsTer3
ENST00000648381.1:n.880_884del
ENST00000648853.1:c.670_674del ENSP00000497262.1:p.Ser224ValfsTer3
ENST00000649103.1:c.811_815del ENSP00000497962.1:n.811_815del
ENST00000650591.1:c.808_812del ENSP00000497376.1:p.Ser270ValfsTer3
ENST00000394236.7:c.712_716del ENSP00000377783.3:p.Ser238ValfsTer3
ENST00000407433.5:c.319_323del ENSP00000385794.1:p.Ser107ValfsTer3
NM_000313.3:c.712_716del , LRG_572t1:c.712_716del NP_000304.2:p.Ser238ValfsTer3
NM_001314077.1:c.808_812del , LRG_572t2:c.808_812del NP_001301006.1:p.Ser270ValfsTer3
NM_000313.4:c.712_716del MANE Select NP_000304.2:p.Ser238ValfsTer3
NM_001314077.2:c.808_812del NP_001301006.1:p.Ser270ValfsTer3