Canonical Allele Identifier: CA2586972705
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93898554_93898558del , CM000665.2:g.93898554_93898558del GRCh38
NC_000003.11:g.93617398_93617402del , CM000665.1:g.93617398_93617402del GRCh37
NC_000003.10:g.95100088_95100092del NCBI36
NG_009813.1:g.80535_80539del , LRG_572:g.80535_80539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.741_745del ENSP00000330021.7:p.Cys247Ter
ENST00000394236.9:c.741_745del MANE Select ENSP00000377783.3:p.Cys247Ter
ENST00000407433.6:c.696_700del ENSP00000385794.2:p.Cys232Ter
ENST00000647936.1:c.741_745del ENSP00000496822.1:p.Cys247Ter
ENST00000648381.1:n.909_913del
ENST00000648853.1:c.699_703del ENSP00000497262.1:p.Cys233Ter
ENST00000649103.1:c.840_844del ENSP00000497962.1:n.840_844del
ENST00000650591.1:c.837_841del ENSP00000497376.1:p.Cys279Ter
ENST00000394236.7:c.741_745del ENSP00000377783.3:p.Cys247Ter
ENST00000407433.5:c.348_352del ENSP00000385794.1:p.Cys116Ter
NM_000313.3:c.741_745del , LRG_572t1:c.741_745del NP_000304.2:p.Cys247Ter
NM_001314077.1:c.837_841del , LRG_572t2:c.837_841del NP_001301006.1:p.Cys279Ter
NM_000313.4:c.741_745del MANE Select NP_000304.2:p.Cys247Ter
NM_001314077.2:c.837_841del NP_001301006.1:p.Cys279Ter