Canonical Allele Identifier: CA2586972619

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927326_93927354del , CM000665.2:g.93927326_93927354del	GRCh38
NC_000003.11:g.93646170_93646198del , CM000665.1:g.93646170_93646198del	GRCh37
NC_000003.10:g.95128860_95128888del	NCBI36
NG_009813.1:g.51741_51769del , LRG_572:g.51741_51769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.134_162del	ENSP00000330021.7:p.Leu45Ter
ENST00000394236.9:c.134_162del MANE Select	ENSP00000377783.3:p.Leu45Ter
ENST00000407433.6:c.134_162del	ENSP00000385794.2:p.Leu45Ter
ENST00000472684.2:c.-260_-232del	ENSP00000419616.2:n.-260_-232del
ENST00000647936.1:c.134_162del	ENSP00000496822.1:p.Leu45Ter
ENST00000648381.1:n.302_330del
ENST00000648853.1:c.92_120del	ENSP00000497262.1:p.Leu31Ter
ENST00000649103.1:c.113_141del	ENSP00000497962.1:p.Leu38Ter
ENST00000650591.1:c.230_258del	ENSP00000497376.1:p.Leu77Ter
ENST00000348974.4:c.230_258del	ENSP00000330021.6:p.Leu77Ter
ENST00000394236.7:c.134_162del	ENSP00000377783.3:p.Leu45Ter
ENST00000407433.5:c.-260_-232del	ENSP00000385794.1:n.-260_-232del
ENST00000472684.1:c.-260_-232del	ENSP00000419616.1:n.-260_-232del
NM_000313.3:c.134_162del , LRG_572t1:c.134_162del	NP_000304.2:p.Leu45Ter
NM_001314077.1:c.230_258del , LRG_572t2:c.230_258del	NP_001301006.1:p.Leu77Ter
NM_000313.4:c.134_162del MANE Select	NP_000304.2:p.Leu45Ter
NM_001314077.2:c.230_258del	NP_001301006.1:p.Leu77Ter