Canonical Allele Identifier: CA2503560

Gene: PROS1

Linked Data

• dbSNP Id: rs770881218
• ExAC: 3:93646067 A / ATG
• gnomAD v2: 3-93646067-A-ATG
• gnomAD v4: 3-93927223-A-ATG
• MyVariant Identifiers: chr3:g.93646067_93646068insTG (hg19) ; chr3:g.93927223_93927224insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927223_93927224insTG , CM000665.2:g.93927223_93927224insTG	GRCh38
NC_000003.11:g.93646067_93646068insTG , CM000665.1:g.93646067_93646068insTG	GRCh37
NC_000003.10:g.95128757_95128758insTG	NCBI36
NG_009813.1:g.51867_51868insCA , LRG_572:g.51867_51868insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.234+26_234+27insCA	ENSP00000330021.7:n.234+26_234+27insCA
ENST00000394236.9:c.234+26_234+27insCA MANE Select	ENSP00000377783.3:n.234+26_234+27insCA
ENST00000407433.6:c.234+26_234+27insCA	ENSP00000385794.2:n.234+26_234+27insCA
ENST00000472684.2:c.-160+26_-160+27insCA	ENSP00000419616.2:n.-160+26_-160+27insCA
ENST00000647936.1:c.234+26_234+27insCA	ENSP00000496822.1:n.234+26_234+27insCA
ENST00000648381.1:n.402+26_402+27insCA
ENST00000648853.1:c.192+26_192+27insCA	ENSP00000497262.1:n.192+26_192+27insCA
ENST00000649103.1:c.213+26_213+27insCA	ENSP00000497962.1:n.213+26_213+27insCA
ENST00000650591.1:c.330+26_330+27insCA	ENSP00000497376.1:n.330+26_330+27insCA
ENST00000348974.4:c.330+26_330+27insCA	ENSP00000330021.6:n.330+26_330+27insCA
ENST00000394236.7:c.234+26_234+27insCA	ENSP00000377783.3:n.234+26_234+27insCA
ENST00000407433.5:c.-160+26_-160+27insCA	ENSP00000385794.1:n.-160+26_-160+27insCA
ENST00000472684.1:c.-160+26_-160+27insCA	ENSP00000419616.1:n.-160+26_-160+27insCA
NM_000313.3:c.234+26_234+27insCA , LRG_572t1:c.234+26_234+27insCA	NP_000304.2:n.234+26_234+27insCA
NM_001314077.1:c.330+26_330+27insCA , LRG_572t2:c.330+26_330+27insCA	NP_001301006.1:n.330+26_330+27insCA
NM_000313.4:c.234+26_234+27insCA MANE Select	NP_000304.2:n.234+26_234+27insCA
NM_001314077.2:c.330+26_330+27insCA	NP_001301006.1:n.330+26_330+27insCA