Canonical Allele Identifier: CA912683028

Gene: PROS1

Linked Data

• dbSNP Id: rs1235555742
• gnomAD v3: 3-93873831-TAAAC-T
• gnomAD v4: 3-93873831-TAAAC-T
• MyVariant Identifiers: chr3:g.93592676_93592679del (hg19) ; chr3:g.93873832_93873835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873835_93873838del , CM000665.2:g.93873835_93873838del	GRCh38
NC_000003.11:g.93592679_93592682del , CM000665.1:g.93592679_93592682del	GRCh37
NC_000003.10:g.95075369_95075372del	NCBI36
NG_009813.1:g.105256_105259del , LRG_572:g.105256_105259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+409_*1+412del	ENSP00000330021.7:n.*1+409_*1+412del
ENST00000394236.9:c.*410_*413del MANE Select	ENSP00000377783.3:n.*410_*413del
ENST00000407433.6:c.*410_*413del	ENSP00000385794.2:n.*410_*413del
ENST00000647936.1:c.*544_*547del	ENSP00000496822.1:n.*544_*547del
ENST00000648381.1:n.2609_2612del
ENST00000648853.1:c.*410_*413del	ENSP00000497262.1:n.*410_*413del
ENST00000650591.1:c.*410_*413del	ENSP00000497376.1:n.*410_*413del
ENST00000394236.7:c.*410_*413del	ENSP00000377783.3:n.*410_*413del
ENST00000407433.5:c.*410_*413del	ENSP00000385794.1:n.*410_*413del
NM_000313.3:c.*410_*413del , LRG_572t1:c.*410_*413del	NP_000304.2:n.*410_*413del
NM_001314077.1:c.*410_*413del , LRG_572t2:c.*410_*413del	NP_001301006.1:n.*410_*413del
NM_000313.4:c.*410_*413del MANE Select	NP_000304.2:n.*410_*413del
NM_001314077.2:c.*410_*413del	NP_001301006.1:n.*410_*413del