Canonical Allele Identifier: CA915940536
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927298_93927299del , CM000665.2:g.93927298_93927299del GRCh38
NC_000003.11:g.93646142_93646143del , CM000665.1:g.93646142_93646143del GRCh37
NC_000003.10:g.95128832_95128833del NCBI36
NG_009813.1:g.51794_51795del , LRG_572:g.51794_51795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.187_188del ENSP00000330021.7:p.Cys63GlnfsTer2
ENST00000394236.9:c.187_188del MANE Select ENSP00000377783.3:p.Cys63GlnfsTer2
ENST00000407433.6:c.187_188del ENSP00000385794.2:p.Cys63GlnfsTer2
ENST00000472684.2:c.-207_-206del ENSP00000419616.2:n.-207_-206del
ENST00000647936.1:c.187_188del ENSP00000496822.1:p.Cys63GlnfsTer2
ENST00000648381.1:n.355_356del
ENST00000648853.1:c.145_146del ENSP00000497262.1:p.Cys49GlnfsTer2
ENST00000649103.1:c.166_167del ENSP00000497962.1:p.Cys56GlnfsTer2
ENST00000650591.1:c.283_284del ENSP00000497376.1:p.Cys95GlnfsTer2
ENST00000348974.4:c.283_284del ENSP00000330021.6:p.Cys95GlnfsTer2
ENST00000394236.7:c.187_188del ENSP00000377783.3:p.Cys63GlnfsTer2
ENST00000407433.5:c.-207_-206del ENSP00000385794.1:n.-207_-206del
ENST00000472684.1:c.-207_-206del ENSP00000419616.1:n.-207_-206del
NM_000313.3:c.187_188del , LRG_572t1:c.187_188del NP_000304.2:p.Cys63GlnfsTer2
NM_001314077.1:c.283_284del , LRG_572t2:c.283_284del NP_001301006.1:p.Cys95GlnfsTer2
NM_000313.4:c.187_188del MANE Select NP_000304.2:p.Cys63GlnfsTer2
NM_001314077.2:c.283_284del NP_001301006.1:p.Cys95GlnfsTer2