Canonical Allele Identifier: CA544756086

Gene: PROS1

Linked Data

• dbSNP Id: rs1193021301
• gnomAD v2: 3-93593048-T-TA
• MyVariant Identifiers: chr3:g.93593048_93593049insA (hg19) ; chr3:g.93874204_93874205insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874205dup , CM000665.2:g.93874205dup	GRCh38
NC_000003.11:g.93593049dup , CM000665.1:g.93593049dup	GRCh37
NC_000003.10:g.95075739dup	NCBI36
NG_009813.1:g.104886dup , LRG_572:g.104886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+39dup	ENSP00000330021.7:n.*1+39dup
ENST00000394236.9:c.*40dup MANE Select	ENSP00000377783.3:n.*40dup
ENST00000407433.6:c.*40dup	ENSP00000385794.2:n.*40dup
ENST00000647936.1:c.*174dup	ENSP00000496822.1:n.*174dup
ENST00000648381.1:n.2239dup
ENST00000648853.1:c.*40dup	ENSP00000497262.1:n.*40dup
ENST00000650591.1:c.*40dup	ENSP00000497376.1:n.*40dup
ENST00000394236.7:c.*40dup	ENSP00000377783.3:n.*40dup
ENST00000407433.5:c.*40dup	ENSP00000385794.1:n.*40dup
NM_000313.3:c.*40dup , LRG_572t1:c.*40dup	NP_000304.2:n.*40dup
NM_001314077.1:c.*40dup , LRG_572t2:c.*40dup	NP_001301006.1:n.*40dup
NM_000313.4:c.*40dup MANE Select	NP_000304.2:n.*40dup
NM_001314077.2:c.*40dup	NP_001301006.1:n.*40dup