Canonical Allele Identifier: CA1050938984

Gene: PROS1

Linked Data

• dbSNP Id: rs1708228748
• gnomAD v3: 3-93878803-CAGT-C
• gnomAD v4: 3-93878803-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93878805_93878807del , CM000665.2:g.93878805_93878807del	GRCh38
NC_000003.11:g.93597649_93597651del , CM000665.1:g.93597649_93597651del	GRCh37
NC_000003.10:g.95080339_95080341del	NCBI36
NG_009813.1:g.100285_100287del , LRG_572:g.100285_100287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1644+357_1644+359del	ENSP00000330021.7:n.1644+357_1644+359del
ENST00000394236.9:c.1644+357_1644+359del MANE Select	ENSP00000377783.3:n.1644+357_1644+359del
ENST00000407433.6:c.1599+357_1599+359del	ENSP00000385794.2:n.1599+357_1599+359del
ENST00000647936.1:c.1644+357_1644+359del	ENSP00000496822.1:n.1644+357_1644+359del
ENST00000648381.1:n.1812+357_1812+359del
ENST00000648853.1:c.1602+357_1602+359del	ENSP00000497262.1:n.1602+357_1602+359del
ENST00000649103.1:c.1743+357_1743+359del	ENSP00000497962.1:n.1743+357_1743+359del
ENST00000649585.1:c.587+357_587+359del	ENSP00000498163.1:n.587+357_587+359del
ENST00000650591.1:c.1740+357_1740+359del	ENSP00000497376.1:n.1740+357_1740+359del
ENST00000394236.7:c.1644+357_1644+359del	ENSP00000377783.3:n.1644+357_1644+359del
ENST00000407433.5:c.1251+357_1251+359del	ENSP00000385794.1:n.1251+357_1251+359del
NM_000313.3:c.1644+357_1644+359del , LRG_572t1:c.1644+357_1644+359del	NP_000304.2:n.1644+357_1644+359del
NM_001314077.1:c.1740+357_1740+359del , LRG_572t2:c.1740+357_1740+359del	NP_001301006.1:n.1740+357_1740+359del
NM_000313.4:c.1644+357_1644+359del MANE Select	NP_000304.2:n.1644+357_1644+359del
NM_001314077.2:c.1740+357_1740+359del	NP_001301006.1:n.1740+357_1740+359del