Canonical Allele Identifier: CA2586972671
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874254_93874257del , CM000665.2:g.93874254_93874257del GRCh38
NC_000003.11:g.93593098_93593101del , CM000665.1:g.93593098_93593101del GRCh37
NC_000003.10:g.95075788_95075791del NCBI36
NG_009813.1:g.104836_104839del , LRG_572:g.104836_104839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.2021_2024del ENSP00000330021.7:p.Lys674IlefsTer12
ENST00000394236.9:c.2021_2024del MANE Select ENSP00000377783.3:p.Lys674IlefsTer10
ENST00000407433.6:c.1976_1979del ENSP00000385794.2:p.Lys659IlefsTer10
ENST00000647936.1:c.*124_*127del ENSP00000496822.1:n.*124_*127del
ENST00000648381.1:n.2189_2192del
ENST00000648853.1:c.1979_1982del ENSP00000497262.1:p.Lys660IlefsTer10
ENST00000650591.1:c.2117_2120del ENSP00000497376.1:p.Lys706IlefsTer10
ENST00000394236.7:c.2021_2024del ENSP00000377783.3:p.Lys674IlefsTer10
ENST00000407433.5:c.1628_1631del ENSP00000385794.1:p.Lys543IlefsTer10
NM_000313.3:c.2021_2024del , LRG_572t1:c.2021_2024del NP_000304.2:p.Lys674IlefsTer10
NM_001314077.1:c.2117_2120del , LRG_572t2:c.2117_2120del NP_001301006.1:p.Lys706IlefsTer10
NM_000313.4:c.2021_2024del MANE Select NP_000304.2:p.Lys674IlefsTer10
NM_001314077.2:c.2117_2120del NP_001301006.1:p.Lys706IlefsTer10