Canonical Allele Identifier: CA1050935342

Gene: PROS1

Linked Data

• dbSNP Id: rs1708144383
• gnomAD v3: 3-93873883-TGTTTGA-T
• gnomAD v4: 3-93873883-TGTTTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873888_93873893del , CM000665.2:g.93873888_93873893del	GRCh38
NC_000003.11:g.93592732_93592737del , CM000665.1:g.93592732_93592737del	GRCh37
NC_000003.10:g.95075422_95075427del	NCBI36
NG_009813.1:g.105202_105207del , LRG_572:g.105202_105207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+355_*1+360del	ENSP00000330021.7:n.*1+355_*1+360del
ENST00000394236.9:c.*356_*361del MANE Select	ENSP00000377783.3:n.*356_*361del
ENST00000407433.6:c.*356_*361del	ENSP00000385794.2:n.*356_*361del
ENST00000647936.1:c.*490_*495del	ENSP00000496822.1:n.*490_*495del
ENST00000648381.1:n.2555_2560del
ENST00000648853.1:c.*356_*361del	ENSP00000497262.1:n.*356_*361del
ENST00000650591.1:c.*356_*361del	ENSP00000497376.1:n.*356_*361del
ENST00000394236.7:c.*356_*361del	ENSP00000377783.3:n.*356_*361del
ENST00000407433.5:c.*356_*361del	ENSP00000385794.1:n.*356_*361del
NM_000313.3:c.*356_*361del , LRG_572t1:c.*356_*361del	NP_000304.2:n.*356_*361del
NM_001314077.1:c.*356_*361del , LRG_572t2:c.*356_*361del	NP_001301006.1:n.*356_*361del
NM_000313.4:c.*356_*361del MANE Select	NP_000304.2:n.*356_*361del
NM_001314077.2:c.*356_*361del	NP_001301006.1:n.*356_*361del