Canonical Allele Identifier: CA2503371

Gene: PROS1

Linked Data

• dbSNP Id: rs751417718
• ExAC: 3:93617420 TA / T
• gnomAD v2: 3-93617420-TA-T
• gnomAD v3: 3-93898576-TA-T
• gnomAD v4: 3-93898576-TA-T
• COSMIC: COSM5355026
• MyVariant Identifiers: chr3:g.93617421del (hg19) ; chr3:g.93898577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898584del , CM000665.2:g.93898584del	GRCh38
NC_000003.11:g.93617428del , CM000665.1:g.93617428del	GRCh37
NC_000003.10:g.95100118del	NCBI36
NG_009813.1:g.80514del , LRG_572:g.80514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.728-8del	ENSP00000330021.7:n.728-8del
ENST00000394236.9:c.728-8del MANE Select	ENSP00000377783.3:n.728-8del
ENST00000407433.6:c.683-8del	ENSP00000385794.2:n.683-8del
ENST00000647936.1:c.728-8del	ENSP00000496822.1:n.728-8del
ENST00000648381.1:n.896-8del
ENST00000648853.1:c.686-8del	ENSP00000497262.1:n.686-8del
ENST00000649103.1:c.827-8del	ENSP00000497962.1:n.827-8del
ENST00000650591.1:c.824-8del	ENSP00000497376.1:n.824-8del
ENST00000394236.7:c.728-8del	ENSP00000377783.3:n.728-8del
ENST00000407433.5:c.335-8del	ENSP00000385794.1:n.335-8del
NM_000313.3:c.728-8del , LRG_572t1:c.728-8del	NP_000304.2:n.728-8del
NM_001314077.1:c.824-8del , LRG_572t2:c.824-8del	NP_001301006.1:n.824-8del
NM_000313.4:c.728-8del MANE Select	NP_000304.2:n.728-8del
NM_001314077.2:c.824-8del	NP_001301006.1:n.824-8del