Canonical Allele Identifier: CA912683063

Gene: PROS1

Linked Data

• dbSNP Id: rs1455618674
• gnomAD v3: 3-93873865-TTTAA-T
• gnomAD v4: 3-93873865-TTTAA-T
• MyVariant Identifiers: chr3:g.93592710_93592713del (hg19) ; chr3:g.93873866_93873869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873869_93873872del , CM000665.2:g.93873869_93873872del	GRCh38
NC_000003.11:g.93592713_93592716del , CM000665.1:g.93592713_93592716del	GRCh37
NC_000003.10:g.95075403_95075406del	NCBI36
NG_009813.1:g.105222_105225del , LRG_572:g.105222_105225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+375_*1+378del	ENSP00000330021.7:n.*1+375_*1+378del
ENST00000394236.9:c.*376_*379del MANE Select	ENSP00000377783.3:n.*376_*379del
ENST00000407433.6:c.*376_*379del	ENSP00000385794.2:n.*376_*379del
ENST00000647936.1:c.*510_*513del	ENSP00000496822.1:n.*510_*513del
ENST00000648381.1:n.2575_2578del
ENST00000648853.1:c.*376_*379del	ENSP00000497262.1:n.*376_*379del
ENST00000650591.1:c.*376_*379del	ENSP00000497376.1:n.*376_*379del
ENST00000394236.7:c.*376_*379del	ENSP00000377783.3:n.*376_*379del
ENST00000407433.5:c.*376_*379del	ENSP00000385794.1:n.*376_*379del
NM_000313.3:c.*376_*379del , LRG_572t1:c.*376_*379del	NP_000304.2:n.*376_*379del
NM_001314077.1:c.*376_*379del , LRG_572t2:c.*376_*379del	NP_001301006.1:n.*376_*379del
NM_000313.4:c.*376_*379del MANE Select	NP_000304.2:n.*376_*379del
NM_001314077.2:c.*376_*379del	NP_001301006.1:n.*376_*379del