Canonical Allele Identifier: CA544750411

Gene: PROS1

Linked Data

• gnomAD v2: 3-93615439-GAAATTTTA-G
• gnomAD v4: 3-93896595-GAAATTTTA-G
• MyVariant Identifiers: chr3:g.93615440_93615447del (hg19) ; chr3:g.93896596_93896603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896598_93896605del , CM000665.2:g.93896598_93896605del	GRCh38
NC_000003.11:g.93615442_93615449del , CM000665.1:g.93615442_93615449del	GRCh37
NC_000003.10:g.95098132_95098139del	NCBI36
NG_009813.1:g.82488_82495del , LRG_572:g.82488_82495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.938_945del	ENSP00000330021.7:p.Leu313SerfsTer13
ENST00000394236.9:c.938_945del MANE Select	ENSP00000377783.3:p.Leu313SerfsTer13
ENST00000407433.6:c.893_900del	ENSP00000385794.2:p.Leu298SerfsTer13
ENST00000647936.1:c.938_945del	ENSP00000496822.1:p.Leu313SerfsTer13
ENST00000648381.1:n.1106_1113del
ENST00000648853.1:c.896_903del	ENSP00000497262.1:p.Leu299SerfsTer13
ENST00000649103.1:c.1037_1044del	ENSP00000497962.1:n.1037_1044del
ENST00000650591.1:c.1034_1041del	ENSP00000497376.1:p.Leu345SerfsTer13
ENST00000394236.7:c.938_945del	ENSP00000377783.3:p.Leu313SerfsTer13
ENST00000407433.5:c.545_552del	ENSP00000385794.1:p.Leu182SerfsTer13
NM_000313.3:c.938_945del , LRG_572t1:c.938_945del	NP_000304.2:p.Leu313SerfsTer13
NM_001314077.1:c.1034_1041del , LRG_572t2:c.1034_1041del	NP_001301006.1:p.Leu345SerfsTer13
NM_000313.4:c.938_945del MANE Select	NP_000304.2:p.Leu313SerfsTer13
NM_001314077.2:c.1034_1041del	NP_001301006.1:p.Leu345SerfsTer13