Canonical Allele Identifier: CA912650378

Gene: PROS1

Linked Data

• dbSNP Id: rs1250681438
• gnomAD v3: 3-93900404-G-GT
• gnomAD v4: 3-93900404-G-GT
• MyVariant Identifiers: chr3:g.93619248_93619249insT (hg19) ; chr3:g.93900404_93900405insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900408dup , CM000665.2:g.93900408dup	GRCh38
NC_000003.11:g.93619252dup , CM000665.1:g.93619252dup	GRCh37
NC_000003.10:g.95101942dup	NCBI36
NG_009813.1:g.78686dup , LRG_572:g.78686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727+399dup	ENSP00000330021.7:n.727+399dup
ENST00000394236.9:c.727+399dup MANE Select	ENSP00000377783.3:n.727+399dup
ENST00000407433.6:c.682+399dup	ENSP00000385794.2:n.682+399dup
ENST00000647936.1:c.727+399dup	ENSP00000496822.1:n.727+399dup
ENST00000648381.1:n.895+399dup
ENST00000648853.1:c.685+399dup	ENSP00000497262.1:n.685+399dup
ENST00000649103.1:c.826+399dup	ENSP00000497962.1:n.826+399dup
ENST00000650591.1:c.823+399dup	ENSP00000497376.1:n.823+399dup
ENST00000394236.7:c.727+399dup	ENSP00000377783.3:n.727+399dup
ENST00000407433.5:c.334+399dup	ENSP00000385794.1:n.334+399dup
NM_000313.3:c.727+399dup , LRG_572t1:c.727+399dup	NP_000304.2:n.727+399dup
NM_001314077.1:c.823+399dup , LRG_572t2:c.823+399dup	NP_001301006.1:n.823+399dup
NM_000313.4:c.727+399dup MANE Select	NP_000304.2:n.727+399dup
NM_001314077.2:c.823+399dup	NP_001301006.1:n.823+399dup