Canonical Allele Identifier: CA2757500448
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874338_93874339insAA , CM000665.2:g.93874338_93874339insAA GRCh38
NC_000003.11:g.93593182_93593183insAA , CM000665.1:g.93593182_93593183insAA GRCh37
NC_000003.10:g.95075872_95075873insAA NCBI36
NG_009813.1:g.104753_104754insTT , LRG_572:g.104753_104754insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1938_1939insTT ENSP00000330021.7:p.Val647LeufsTer?
ENST00000394236.9:c.1938_1939insTT MANE Select ENSP00000377783.3:p.Val647LeufsTer?
ENST00000407433.6:c.1893_1894insTT ENSP00000385794.2:p.Val632LeufsTer?
ENST00000647936.1:c.*41_*42insTT ENSP00000496822.1:n.*41_*42insTT
ENST00000648381.1:n.2106_2107insTT
ENST00000648853.1:c.1896_1897insTT ENSP00000497262.1:p.Val633LeufsTer?
ENST00000650591.1:c.2034_2035insTT ENSP00000497376.1:p.Val679LeufsTer?
ENST00000394236.7:c.1938_1939insTT ENSP00000377783.3:p.Val647LeufsTer?
ENST00000407433.5:c.1545_1546insTT ENSP00000385794.1:p.Val516LeufsTer?
NM_000313.3:c.1938_1939insTT , LRG_572t1:c.1938_1939insTT NP_000304.2:p.Val647LeufsTer?
NM_001314077.1:c.2034_2035insTT , LRG_572t2:c.2034_2035insTT NP_001301006.1:p.Val679LeufsTer?
NM_000313.4:c.1938_1939insTT MANE Select NP_000304.2:p.Val647LeufsTer?
NM_001314077.2:c.2034_2035insTT NP_001301006.1:p.Val679LeufsTer?