Canonical Allele Identifier: CA1050935597

Gene: PROS1

Linked Data

• dbSNP Id: rs1708149864
• gnomAD v3: 3-93874241-TG-T
• gnomAD v4: 3-93874241-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874242del , CM000665.2:g.93874242del	GRCh38
NC_000003.11:g.93593086del , CM000665.1:g.93593086del	GRCh37
NC_000003.10:g.95075776del	NCBI36
NG_009813.1:g.104849del , LRG_572:g.104849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+2del	ENSP00000330021.7:n.*1+2del
ENST00000394236.9:c.*3del MANE Select	ENSP00000377783.3:n.*3del
ENST00000407433.6:c.*3del	ENSP00000385794.2:n.*3del
ENST00000647936.1:c.*137del	ENSP00000496822.1:n.*137del
ENST00000648381.1:n.2202del
ENST00000648853.1:c.*3del	ENSP00000497262.1:n.*3del
ENST00000650591.1:c.*3del	ENSP00000497376.1:n.*3del
ENST00000394236.7:c.*3del	ENSP00000377783.3:n.*3del
ENST00000407433.5:c.*3del	ENSP00000385794.1:n.*3del
NM_000313.3:c.*3del , LRG_572t1:c.*3del	NP_000304.2:n.*3del
NM_001314077.1:c.*3del , LRG_572t2:c.*3del	NP_001301006.1:n.*3del
NM_000313.4:c.*3del MANE Select	NP_000304.2:n.*3del
NM_001314077.2:c.*3del	NP_001301006.1:n.*3del