Canonical Allele Identifier: CA2527145768
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCACATTCAGCTCCTCTCACATATTCTTCTTTGTTTTATTTATAATTTTT , CM000665.2:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCACATTCAGCTCCTCTCACATATTCTTCTTTGTTTTATTTATAATTTTT GRCh38
NC_000003.11:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCACATTCAGCTCCTCTCACATATTCTTCTTTGTTTTATTTATAATTTTT , CM000665.1:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCACATTCAGCTCCTCTCACATATTCTTCTTTGTTTTATTTATAATTTTT GRCh37
NC_000003.10:g.95080374_95080375insTTTTTTTTTTTTTTTTTTTTTTAGGCTTTATGGGGCACATTCAGCTCCTCTCACATATTCTTCTTTGTTTTATTTATAATTTTT NCBI36
NG_009813.1:g.100252_100253insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA , LRG_572:g.100252_100253insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000330021.7:n.1644+324_1644+325insAAATTATAAATAAAACAAAGA...
ENST00000394236.9:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA MANE Select ENSP00000377783.3:n.1644+324_1644+325insAAATTATAAATAAAACAAAGA...
ENST00000407433.6:c.1599+324_1599+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000385794.2:n.1599+324_1599+325insAAATTATAAATAAAACAAAGA...
ENST00000647936.1:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000496822.1:n.1644+324_1644+325insAAATTATAAATAAAACAAAGA...
ENST00000648381.1:n.1812+324_1812+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000648853.1:c.1602+324_1602+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000497262.1:n.1602+324_1602+325insAAATTATAAATAAAACAAAGA...
ENST00000649103.1:c.1743+324_1743+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000497962.1:n.1743+324_1743+325insAAATTATAAATAAAACAAAGA...
ENST00000649585.1:c.587+324_587+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000498163.1:n.587+324_587+325insAAATTATAAATAAAACAAAGAAG...
ENST00000650591.1:c.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000497376.1:n.1740+324_1740+325insAAATTATAAATAAAACAAAGA...
ENST00000394236.7:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000377783.3:n.1644+324_1644+325insAAATTATAAATAAAACAAAGA...
ENST00000407433.5:c.1251+324_1251+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000385794.1:n.1251+324_1251+325insAAATTATAAATAAAACAAAGA...
NM_000313.3:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA , LRG_572t1:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA NP_000304.2:n.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATA...
NM_001314077.1:c.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA , LRG_572t2:c.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA NP_001301006.1:n.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGA...
NM_000313.4:c.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA MANE Select NP_000304.2:n.1644+324_1644+325insAAATTATAAATAAAACAAAGAAGAATA...
NM_001314077.2:c.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGAATATGTGAGAGGAGCTGAATGTGCCCCATAAAGCCTAAAAAAAAAAAAAAAAAAAAAAAA NP_001301006.1:n.1740+324_1740+325insAAATTATAAATAAAACAAAGAAGA...