Canonical Allele Identifier: CA1050928388

Gene: PROS1

Linked Data

• dbSNP Id: rs1708660810
• gnomAD v3: 3-93905600-ATC-A
• gnomAD v4: 3-93905600-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905605_93905606del , CM000665.2:g.93905605_93905606del	GRCh38
NC_000003.11:g.93624449_93624450del , CM000665.1:g.93624449_93624450del	GRCh37
NC_000003.10:g.95107139_95107140del	NCBI36
NG_009813.1:g.73489_73490del , LRG_572:g.73489_73490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.601+182_601+183del	ENSP00000330021.7:n.601+182_601+183del
ENST00000394236.9:c.601+182_601+183del MANE Select	ENSP00000377783.3:n.601+182_601+183del
ENST00000407433.6:c.556+227_556+228del	ENSP00000385794.2:n.556+227_556+228del
ENST00000647936.1:c.601+182_601+183del	ENSP00000496822.1:n.601+182_601+183del
ENST00000648381.1:n.769+182_769+183del
ENST00000648853.1:c.559+182_559+183del	ENSP00000497262.1:n.559+182_559+183del
ENST00000649103.1:c.700+182_700+183del	ENSP00000497962.1:n.700+182_700+183del
ENST00000650591.1:c.697+182_697+183del	ENSP00000497376.1:n.697+182_697+183del
ENST00000394236.7:c.601+182_601+183del	ENSP00000377783.3:n.601+182_601+183del
ENST00000407433.5:c.208+182_208+183del	ENSP00000385794.1:n.208+182_208+183del
NM_000313.3:c.601+182_601+183del , LRG_572t1:c.601+182_601+183del	NP_000304.2:n.601+182_601+183del
NM_001314077.1:c.697+182_697+183del , LRG_572t2:c.697+182_697+183del	NP_001301006.1:n.697+182_697+183del
NM_000313.4:c.601+182_601+183del MANE Select	NP_000304.2:n.601+182_601+183del
NM_001314077.2:c.697+182_697+183del	NP_001301006.1:n.697+182_697+183del