Canonical Allele Identifier: CA2573137476

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1523041
• ClinVar RCV Id: RCV002036468 ; RCV003408102

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874275_93874276delinsCA , CM000665.2:g.93874275_93874276delinsCA	GRCh38
NC_000003.11:g.93593119_93593120delinsCA , CM000665.1:g.93593119_93593120delinsCA	GRCh37
NC_000003.10:g.95075809_95075810delinsCA	NCBI36
NG_009813.1:g.104815_104816delinsTG , LRG_572:g.104815_104816delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2000_2001delinsTG	ENSP00000330021.7:p.Pro667Leu
ENST00000394236.9:c.2000_2001delinsTG MANE Select	ENSP00000377783.3:p.Pro667Leu
ENST00000407433.6:c.1955_1956delinsTG	ENSP00000385794.2:p.Pro652Leu
ENST00000647936.1:c.*103_*104delinsTG	ENSP00000496822.1:n.*103_*104delinsTG
ENST00000648381.1:n.2168_2169delinsTG
ENST00000648853.1:c.1958_1959delinsTG	ENSP00000497262.1:p.Pro653Leu
ENST00000650591.1:c.2096_2097delinsTG	ENSP00000497376.1:p.Pro699Leu
ENST00000394236.7:c.2000_2001delinsTG	ENSP00000377783.3:p.Pro667Leu
ENST00000407433.5:c.1607_1608delinsTG	ENSP00000385794.1:p.Pro536Leu
NM_000313.3:c.2000_2001delinsTG , LRG_572t1:c.2000_2001delinsTG	NP_000304.2:p.Pro667Leu
NM_001314077.1:c.2096_2097delinsTG , LRG_572t2:c.2096_2097delinsTG	NP_001301006.1:p.Pro699Leu
NM_000313.4:c.2000_2001delinsTG MANE Select	NP_000304.2:p.Pro667Leu
NM_001314077.2:c.2096_2097delinsTG	NP_001301006.1:p.Pro699Leu