Canonical Allele Identifier: CA2666655725

Gene: PROS1

Linked Data

• gnomAD v4: 3-93927349-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927352dup , CM000665.2:g.93927352dup	GRCh38
NC_000003.11:g.93646196dup , CM000665.1:g.93646196dup	GRCh37
NC_000003.10:g.95128886dup	NCBI36
NG_009813.1:g.51741dup , LRG_572:g.51741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.134dup	ENSP00000330021.7:p.Leu45PhefsTer3
ENST00000394236.9:c.134dup MANE Select	ENSP00000377783.3:p.Leu45PhefsTer3
ENST00000407433.6:c.134dup	ENSP00000385794.2:p.Leu45PhefsTer3
ENST00000472684.2:c.-260dup	ENSP00000419616.2:n.-260dup
ENST00000647936.1:c.134dup	ENSP00000496822.1:p.Leu45PhefsTer3
ENST00000648381.1:n.302dup
ENST00000648853.1:c.92dup	ENSP00000497262.1:p.Leu31PhefsTer3
ENST00000649103.1:c.113dup	ENSP00000497962.1:p.Leu38PhefsTer3
ENST00000650591.1:c.230dup	ENSP00000497376.1:p.Leu77PhefsTer3
ENST00000348974.4:c.230dup	ENSP00000330021.6:p.Leu77PhefsTer3
ENST00000394236.7:c.134dup	ENSP00000377783.3:p.Leu45PhefsTer3
ENST00000407433.5:c.-260dup	ENSP00000385794.1:n.-260dup
ENST00000472684.1:c.-260dup	ENSP00000419616.1:n.-260dup
NM_000313.3:c.134dup , LRG_572t1:c.134dup	NP_000304.2:p.Leu45PhefsTer3
NM_001314077.1:c.230dup , LRG_572t2:c.230dup	NP_001301006.1:p.Leu77PhefsTer3
NM_000313.4:c.134dup MANE Select	NP_000304.2:p.Leu45PhefsTer3
NM_001314077.2:c.230dup	NP_001301006.1:p.Leu77PhefsTer3