Canonical Allele Identifier: CA923726127

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1684341
• ClinVar RCV Id: RCV002245347 ; RCV003225224
• dbSNP Id: rs2107125195
• gnomAD v4: 3-93877070-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877073_93877074del , CM000665.2:g.93877073_93877074del	GRCh38
NC_000003.11:g.93595917_93595918del , CM000665.1:g.93595917_93595918del	GRCh37
NC_000003.10:g.95078607_95078608del	NCBI36
NG_009813.1:g.102019_102020del , LRG_572:g.102019_102020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1764_1765del	ENSP00000330021.7:p.Pro589ThrfsTer2
ENST00000394236.9:c.1764_1765del MANE Select	ENSP00000377783.3:p.Pro589ThrfsTer2
ENST00000407433.6:c.1719_1720del	ENSP00000385794.2:p.Pro574ThrfsTer2
ENST00000647936.1:c.1644+2091_1644+2092del	ENSP00000496822.1:n.1644+2091_1644+2092del
ENST00000648381.1:n.1932_1933del
ENST00000648853.1:c.1722_1723del	ENSP00000497262.1:p.Pro575ThrfsTer2
ENST00000649103.1:c.1863_1864del	ENSP00000497962.1:n.1863_1864del
ENST00000649585.1:c.707_708del	ENSP00000498163.1:n.707_708del
ENST00000650591.1:c.1860_1861del	ENSP00000497376.1:p.Pro621ThrfsTer2
ENST00000394236.7:c.1764_1765del	ENSP00000377783.3:p.Pro589ThrfsTer2
ENST00000407433.5:c.1371_1372del	ENSP00000385794.1:p.Pro458ThrfsTer2
NM_000313.3:c.1764_1765del , LRG_572t1:c.1764_1765del	NP_000304.2:p.Pro589ThrfsTer2
NM_001314077.1:c.1860_1861del , LRG_572t2:c.1860_1861del	NP_001301006.1:p.Pro621ThrfsTer2
NM_000313.4:c.1764_1765del MANE Select	NP_000304.2:p.Pro589ThrfsTer2
NM_001314077.2:c.1860_1861del	NP_001301006.1:p.Pro621ThrfsTer2