Canonical Allele Identifier: CA2586972692
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93879279del , CM000665.2:g.93879279del GRCh38
NC_000003.11:g.93598123del , CM000665.1:g.93598123del GRCh37
NC_000003.10:g.95080813del NCBI36
NG_009813.1:g.99812del , LRG_572:g.99812del

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1528del ENSP00000330021.7:p.Val510Ter
ENST00000394236.9:c.1528del MANE Select ENSP00000377783.3:p.Val510Ter
ENST00000407433.6:c.1483del ENSP00000385794.2:p.Val495Ter
ENST00000647936.1:c.1528del ENSP00000496822.1:p.Val510Ter
ENST00000648381.1:n.1696del
ENST00000648853.1:c.1486del ENSP00000497262.1:p.Val496Ter
ENST00000649103.1:c.1627del ENSP00000497962.1:n.1627del
ENST00000649585.1:c.471del ENSP00000498163.1:n.471del
ENST00000650591.1:c.1624del ENSP00000497376.1:p.Val542Ter
ENST00000394236.7:c.1528del ENSP00000377783.3:p.Val510Ter
ENST00000407433.5:c.1135del ENSP00000385794.1:p.Val379Ter
NM_000313.3:c.1528del , LRG_572t1:c.1528del NP_000304.2:p.Val510Ter
NM_001314077.1:c.1624del , LRG_572t2:c.1624del NP_001301006.1:p.Val542Ter
NM_000313.4:c.1528del MANE Select NP_000304.2:p.Val510Ter
NM_001314077.2:c.1624del NP_001301006.1:p.Val542Ter