Canonical Allele Identifier: CA544755979

Gene: PROS1

Linked Data

• dbSNP Id: rs1285095976
• gnomAD v2: 3-93592760-AC-A
• gnomAD v3: 3-93873916-AC-A
• gnomAD v4: 3-93873916-AC-A
• MyVariant Identifiers: chr3:g.93592761del (hg19) ; chr3:g.93873917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873917del , CM000665.2:g.93873917del	GRCh38
NC_000003.11:g.93592761del , CM000665.1:g.93592761del	GRCh37
NC_000003.10:g.95075451del	NCBI36
NG_009813.1:g.105174del , LRG_572:g.105174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+327del	ENSP00000330021.7:n.*1+327del
ENST00000394236.9:c.*328del MANE Select	ENSP00000377783.3:n.*328del
ENST00000407433.6:c.*328del	ENSP00000385794.2:n.*328del
ENST00000647936.1:c.*462del	ENSP00000496822.1:n.*462del
ENST00000648381.1:n.2527del
ENST00000648853.1:c.*328del	ENSP00000497262.1:n.*328del
ENST00000650591.1:c.*328del	ENSP00000497376.1:n.*328del
ENST00000394236.7:c.*328del	ENSP00000377783.3:n.*328del
ENST00000407433.5:c.*328del	ENSP00000385794.1:n.*328del
NM_000313.3:c.*328del , LRG_572t1:c.*328del	NP_000304.2:n.*328del
NM_001314077.1:c.*328del , LRG_572t2:c.*328del	NP_001301006.1:n.*328del
NM_000313.4:c.*328del MANE Select	NP_000304.2:n.*328del
NM_001314077.2:c.*328del	NP_001301006.1:n.*328del