Canonical Allele Identifier: CA1050939112

Gene: PROS1

Linked Data

• gnomAD v3: 3-93878840-T-TTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC
• gnomAD v4: 3-93878840-T-TTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC , CM000665.2:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC	GRCh38
NC_000003.11:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC , CM000665.1:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC	GRCh37
NC_000003.10:g.95080374_95080375insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCAC	NCBI36
NG_009813.1:g.100250_100251insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA , LRG_572:g.100250_100251insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000330021.7:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000394236.9:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000377783.3:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000407433.6:c.1599+322_1599+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000385794.2:n.1599+322_1599+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000647936.1:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000496822.1:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000648381.1:n.1812+322_1812+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA
ENST00000648853.1:c.1602+322_1602+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497262.1:n.1602+322_1602+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000649103.1:c.1743+322_1743+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497962.1:n.1743+322_1743+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000649585.1:c.587+322_587+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000498163.1:n.587+322_587+323insGTGCCCCATAAAGCCTAAAAAAA...
ENST00000650591.1:c.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497376.1:n.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000394236.7:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000377783.3:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAA...
ENST00000407433.5:c.1251+322_1251+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	ENSP00000385794.1:n.1251+322_1251+323insGTGCCCCATAAAGCCTAAAAA...
NM_000313.3:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA , LRG_572t1:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	NP_000304.2:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAA...
NM_001314077.1:c.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA , LRG_572t2:c.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAA...
NM_000313.4:c.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_000304.2:n.1644+322_1644+323insGTGCCCCATAAAGCCTAAAAAAAAAAA...
NM_001314077.2:c.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+322_1740+323insGTGCCCCATAAAGCCTAAAAAAAA...