Canonical Allele Identifier: CA1050939127

Gene: PROS1

Linked Data

• gnomAD v3: 3-93878841-A-AGGCTTTATGGGGCACATTCAGCTCCTCTCACAT
• gnomAD v4: 3-93878841-A-AGGCTTTATGGGGCACATTCAGCTCCTCTCACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93878841_93878842insGGCTTTATGGGGCACATTCAGCTCCTCTCACAT , CM000665.2:g.93878841_93878842insGGCTTTATGGGGCACATTCAGCTCCTCTCACAT	GRCh38
NC_000003.11:g.93597685_93597686insGGCTTTATGGGGCACATTCAGCTCCTCTCACAT , CM000665.1:g.93597685_93597686insGGCTTTATGGGGCACATTCAGCTCCTCTCACAT	GRCh37
NC_000003.10:g.95080375_95080376insGGCTTTATGGGGCACATTCAGCTCCTCTCACAT	NCBI36
NG_009813.1:g.100249_100250insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC , LRG_572:g.100249_100250insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000330021.7:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTG...
ENST00000394236.9:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC MANE Select	ENSP00000377783.3:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTG...
ENST00000407433.6:c.1599+321_1599+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000385794.2:n.1599+321_1599+322insATGTGAGAGGAGCTGAATGTG...
ENST00000647936.1:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000496822.1:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTG...
ENST00000648381.1:n.1812+321_1812+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC
ENST00000648853.1:c.1602+321_1602+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000497262.1:n.1602+321_1602+322insATGTGAGAGGAGCTGAATGTG...
ENST00000649103.1:c.1743+321_1743+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000497962.1:n.1743+321_1743+322insATGTGAGAGGAGCTGAATGTG...
ENST00000649585.1:c.587+321_587+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000498163.1:n.587+321_587+322insATGTGAGAGGAGCTGAATGTGCC...
ENST00000650591.1:c.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000497376.1:n.1740+321_1740+322insATGTGAGAGGAGCTGAATGTG...
ENST00000394236.7:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000377783.3:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTG...
ENST00000407433.5:c.1251+321_1251+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	ENSP00000385794.1:n.1251+321_1251+322insATGTGAGAGGAGCTGAATGTG...
NM_000313.3:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC , LRG_572t1:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	NP_000304.2:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCAT...
NM_001314077.1:c.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC , LRG_572t2:c.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	NP_001301006.1:n.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCC...
NM_000313.4:c.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC MANE Select	NP_000304.2:n.1644+321_1644+322insATGTGAGAGGAGCTGAATGTGCCCCAT...
NM_001314077.2:c.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCCCATAAAGCC	NP_001301006.1:n.1740+321_1740+322insATGTGAGAGGAGCTGAATGTGCCC...