Canonical Allele Identifier: CA2666655709

Gene: PROS1

Linked Data

• gnomAD v4: 3-93927194-CAGTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927198_93927204del , CM000665.2:g.93927198_93927204del	GRCh38
NC_000003.11:g.93646042_93646048del , CM000665.1:g.93646042_93646048del	GRCh37
NC_000003.10:g.95128732_95128738del	NCBI36
NG_009813.1:g.51890_51896del , LRG_572:g.51890_51896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.234+49_234+55del	ENSP00000330021.7:n.234+49_234+55del
ENST00000394236.9:c.234+49_234+55del MANE Select	ENSP00000377783.3:n.234+49_234+55del
ENST00000407433.6:c.234+49_234+55del	ENSP00000385794.2:n.234+49_234+55del
ENST00000472684.2:c.-160+49_-160+55del	ENSP00000419616.2:n.-160+49_-160+55del
ENST00000647936.1:c.234+49_234+55del	ENSP00000496822.1:n.234+49_234+55del
ENST00000648381.1:n.402+49_402+55del
ENST00000648853.1:c.192+49_192+55del	ENSP00000497262.1:n.192+49_192+55del
ENST00000649103.1:c.213+49_213+55del	ENSP00000497962.1:n.213+49_213+55del
ENST00000650591.1:c.330+49_330+55del	ENSP00000497376.1:n.330+49_330+55del
ENST00000348974.4:c.330+49_330+55del	ENSP00000330021.6:n.330+49_330+55del
ENST00000394236.7:c.234+49_234+55del	ENSP00000377783.3:n.234+49_234+55del
ENST00000407433.5:c.-160+49_-160+55del	ENSP00000385794.1:n.-160+49_-160+55del
ENST00000472684.1:c.-160+49_-160+55del	ENSP00000419616.1:n.-160+49_-160+55del
NM_000313.3:c.234+49_234+55del , LRG_572t1:c.234+49_234+55del	NP_000304.2:n.234+49_234+55del
NM_001314077.1:c.330+49_330+55del , LRG_572t2:c.330+49_330+55del	NP_001301006.1:n.330+49_330+55del
NM_000313.4:c.234+49_234+55del MANE Select	NP_000304.2:n.234+49_234+55del
NM_001314077.2:c.330+49_330+55del	NP_001301006.1:n.330+49_330+55del