Canonical Allele Identifier: CA2586972672
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874256_93874257del , CM000665.2:g.93874256_93874257del GRCh38
NC_000003.11:g.93593100_93593101del , CM000665.1:g.93593100_93593101del GRCh37
NC_000003.10:g.95075790_95075791del NCBI36
NG_009813.1:g.104835_104836del , LRG_572:g.104835_104836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.2020_2021del ENSP00000330021.7:p.Lys674GlufsTer19
ENST00000394236.9:c.2020_2021del MANE Select ENSP00000377783.3:p.Lys674GlufsTer24
ENST00000407433.6:c.1975_1976del ENSP00000385794.2:p.Lys659GlufsTer24
ENST00000647936.1:c.*123_*124del ENSP00000496822.1:n.*123_*124del
ENST00000648381.1:n.2188_2189del
ENST00000648853.1:c.1978_1979del ENSP00000497262.1:p.Lys660GlufsTer24
ENST00000650591.1:c.2116_2117del ENSP00000497376.1:p.Lys706GlufsTer24
ENST00000394236.7:c.2020_2021del ENSP00000377783.3:p.Lys674GlufsTer24
ENST00000407433.5:c.1627_1628del ENSP00000385794.1:p.Lys543GlufsTer24
NM_000313.3:c.2020_2021del , LRG_572t1:c.2020_2021del NP_000304.2:p.Lys674GlufsTer24
NM_001314077.1:c.2116_2117del , LRG_572t2:c.2116_2117del NP_001301006.1:p.Lys706GlufsTer24
NM_000313.4:c.2020_2021del MANE Select NP_000304.2:p.Lys674GlufsTer24
NM_001314077.2:c.2116_2117del NP_001301006.1:p.Lys706GlufsTer24