Canonical Allele Identifier: CA78520033

Gene: PROS1

Linked Data

• dbSNP Id: rs1023062170
• gnomAD v2: 3-93592753-G-GA
• gnomAD v3: 3-93873909-G-GA
• gnomAD v4: 3-93873909-G-GA
• MyVariant Identifiers: chr3:g.93592753_93592754insA (hg19) ; chr3:g.93873909_93873910insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873916dup , CM000665.2:g.93873916dup	GRCh38
NC_000003.11:g.93592760dup , CM000665.1:g.93592760dup	GRCh37
NC_000003.10:g.95075450dup	NCBI36
NG_009813.1:g.105181dup , LRG_572:g.105181dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+334dup	ENSP00000330021.7:n.*1+334dup
ENST00000394236.9:c.*335dup MANE Select	ENSP00000377783.3:n.*335dup
ENST00000407433.6:c.*335dup	ENSP00000385794.2:n.*335dup
ENST00000647936.1:c.*469dup	ENSP00000496822.1:n.*469dup
ENST00000648381.1:n.2534dup
ENST00000648853.1:c.*335dup	ENSP00000497262.1:n.*335dup
ENST00000650591.1:c.*335dup	ENSP00000497376.1:n.*335dup
ENST00000394236.7:c.*335dup	ENSP00000377783.3:n.*335dup
ENST00000407433.5:c.*335dup	ENSP00000385794.1:n.*335dup
NM_000313.3:c.*335dup , LRG_572t1:c.*335dup	NP_000304.2:n.*335dup
NM_001314077.1:c.*335dup , LRG_572t2:c.*335dup	NP_001301006.1:n.*335dup
NM_000313.4:c.*335dup MANE Select	NP_000304.2:n.*335dup
NM_001314077.2:c.*335dup	NP_001301006.1:n.*335dup