Canonical Allele Identifier: CA2739279868
Gene: PROS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2841937
ClinVar RCV Id: RCV003644117

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896576_93896577delinsGG , CM000665.2:g.93896576_93896577delinsGG GRCh38
NC_000003.11:g.93615420_93615421delinsGG , CM000665.1:g.93615420_93615421delinsGG GRCh37
NC_000003.10:g.95098110_95098111delinsGG NCBI36
NG_009813.1:g.82514_82515delinsCC , LRG_572:g.82514_82515delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.964_965delinsCC ENSP00000330021.7:p.Arg322Pro
ENST00000394236.9:c.964_965delinsCC MANE Select ENSP00000377783.3:p.Arg322Pro
ENST00000407433.6:c.919_920delinsCC ENSP00000385794.2:p.Arg307Pro
ENST00000647936.1:c.964_965delinsCC ENSP00000496822.1:p.Arg322Pro
ENST00000648381.1:n.1132_1133delinsCC
ENST00000648853.1:c.922_923delinsCC ENSP00000497262.1:p.Arg308Pro
ENST00000649103.1:c.1063_1064delinsCC ENSP00000497962.1:n.1063_1064delinsCC
ENST00000650591.1:c.1060_1061delinsCC ENSP00000497376.1:p.Arg354Pro
ENST00000394236.7:c.964_965delinsCC ENSP00000377783.3:p.Arg322Pro
ENST00000407433.5:c.571_572delinsCC ENSP00000385794.1:p.Arg191Pro
NM_000313.3:c.964_965delinsCC , LRG_572t1:c.964_965delinsCC NP_000304.2:p.Arg322Pro
NM_001314077.1:c.1060_1061delinsCC , LRG_572t2:c.1060_1061delinsCC NP_001301006.1:p.Arg354Pro
NM_000313.4:c.964_965delinsCC MANE Select NP_000304.2:p.Arg322Pro
NM_001314077.2:c.1060_1061delinsCC NP_001301006.1:p.Arg354Pro