Canonical Allele Identifier: CA78520091

Gene: PROS1

Linked Data

• dbSNP Id: rs970142530
• gnomAD v4: 3-93874180-C-CTGT
• MyVariant Identifiers: chr3:g.93593024_93593025insTGT (hg19) ; chr3:g.93874180_93874181insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874182_93874184dup , CM000665.2:g.93874182_93874184dup	GRCh38
NC_000003.11:g.93593026_93593028dup , CM000665.1:g.93593026_93593028dup	GRCh37
NC_000003.10:g.95075716_95075718dup	NCBI36
NG_009813.1:g.104908_104910dup , LRG_572:g.104908_104910dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.*1+61_*1+63dup	ENSP00000330021.7:n.*1+61_*1+63dup
ENST00000394236.9:c.*62_*64dup MANE Select	ENSP00000377783.3:n.*62_*64dup
ENST00000407433.6:c.*62_*64dup	ENSP00000385794.2:n.*62_*64dup
ENST00000647936.1:c.*196_*198dup	ENSP00000496822.1:n.*196_*198dup
ENST00000648381.1:n.2261_2263dup
ENST00000648853.1:c.*62_*64dup	ENSP00000497262.1:n.*62_*64dup
ENST00000650591.1:c.*62_*64dup	ENSP00000497376.1:n.*62_*64dup
ENST00000394236.7:c.*62_*64dup	ENSP00000377783.3:n.*62_*64dup
ENST00000407433.5:c.*62_*64dup	ENSP00000385794.1:n.*62_*64dup
NM_000313.3:c.*62_*64dup , LRG_572t1:c.*62_*64dup	NP_000304.2:n.*62_*64dup
NM_001314077.1:c.*62_*64dup , LRG_572t2:c.*62_*64dup	NP_001301006.1:n.*62_*64dup
NM_000313.4:c.*62_*64dup MANE Select	NP_000304.2:n.*62_*64dup
NM_001314077.2:c.*62_*64dup	NP_001301006.1:n.*62_*64dup