Canonical Allele Identifier: CA2503585

Gene: PROS1

Linked Data

• dbSNP Id: rs774537315
• ExAC: 3:93646193 TA / T
• MyVariant Identifiers: chr3:g.93646194del (hg19) ; chr3:g.93927350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927352del , CM000665.2:g.93927352del	GRCh38
NC_000003.11:g.93646196del , CM000665.1:g.93646196del	GRCh37
NC_000003.10:g.95128886del	NCBI36
NG_009813.1:g.51741del , LRG_572:g.51741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.134del	ENSP00000330021.7:p.Leu45TyrfsTer?
ENST00000394236.9:c.134del MANE Select	ENSP00000377783.3:p.Leu45TyrfsTer?
ENST00000407433.6:c.134del	ENSP00000385794.2:p.Leu45TyrfsTer?
ENST00000472684.2:c.-260del	ENSP00000419616.2:n.-260del
ENST00000647936.1:c.134del	ENSP00000496822.1:p.Leu45TyrfsTer?
ENST00000648381.1:n.302del
ENST00000648853.1:c.92del	ENSP00000497262.1:p.Leu31TyrfsTer?
ENST00000649103.1:c.113del	ENSP00000497962.1:p.Leu38TyrfsTer?
ENST00000650591.1:c.230del	ENSP00000497376.1:p.Leu77TyrfsTer?
ENST00000348974.4:c.230del	ENSP00000330021.6:p.Leu77TyrfsTer?
ENST00000394236.7:c.134del	ENSP00000377783.3:p.Leu45TyrfsTer?
ENST00000407433.5:c.-260del	ENSP00000385794.1:n.-260del
ENST00000472684.1:c.-260del	ENSP00000419616.1:n.-260del
NM_000313.3:c.134del , LRG_572t1:c.134del	NP_000304.2:p.Leu45TyrfsTer?
NM_001314077.1:c.230del , LRG_572t2:c.230del	NP_001301006.1:p.Leu77TyrfsTer?
NM_000313.4:c.134del MANE Select	NP_000304.2:p.Leu45TyrfsTer?
NM_001314077.2:c.230del	NP_001301006.1:p.Leu77TyrfsTer?