Canonical Allele Identifier: CA2666657020

Gene: PROS1

Linked Data

• gnomAD v4: 3-93896447-CTGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896450_93896453del , CM000665.2:g.93896450_93896453del	GRCh38
NC_000003.11:g.93615294_93615297del , CM000665.1:g.93615294_93615297del	GRCh37
NC_000003.10:g.95097984_95097987del	NCBI36
NG_009813.1:g.82640_82643del , LRG_572:g.82640_82643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.965+125_965+128del	ENSP00000330021.7:n.965+125_965+128del
ENST00000394236.9:c.965+125_965+128del MANE Select	ENSP00000377783.3:n.965+125_965+128del
ENST00000407433.6:c.920+125_920+128del	ENSP00000385794.2:n.920+125_920+128del
ENST00000647936.1:c.965+125_965+128del	ENSP00000496822.1:n.965+125_965+128del
ENST00000648381.1:n.1133+125_1133+128del
ENST00000648853.1:c.923+125_923+128del	ENSP00000497262.1:n.923+125_923+128del
ENST00000649103.1:c.1064+125_1064+128del	ENSP00000497962.1:n.1064+125_1064+128del
ENST00000650591.1:c.1061+125_1061+128del	ENSP00000497376.1:n.1061+125_1061+128del
ENST00000394236.7:c.965+125_965+128del	ENSP00000377783.3:n.965+125_965+128del
ENST00000407433.5:c.572+125_572+128del	ENSP00000385794.1:n.572+125_572+128del
NM_000313.3:c.965+125_965+128del , LRG_572t1:c.965+125_965+128del	NP_000304.2:n.965+125_965+128del
NM_001314077.1:c.1061+125_1061+128del , LRG_572t2:c.1061+125_1061+128del	NP_001301006.1:n.1061+125_1061+128del
NM_000313.4:c.965+125_965+128del MANE Select	NP_000304.2:n.965+125_965+128del
NM_001314077.2:c.1061+125_1061+128del	NP_001301006.1:n.1061+125_1061+128del