Canonical Allele Identifier: CA2577828407

Gene: PROS1

Linked Data

• gnomAD v4: 3-93900749-TCAGGGTTCACACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900752_93900764del , CM000665.2:g.93900752_93900764del	GRCh38
NC_000003.11:g.93619596_93619608del , CM000665.1:g.93619596_93619608del	GRCh37
NC_000003.10:g.95102286_95102298del	NCBI36
NG_009813.1:g.78329_78341del , LRG_572:g.78329_78341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.727+42_727+54del	ENSP00000330021.7:n.727+42_727+54del
ENST00000394236.9:c.727+42_727+54del MANE Select	ENSP00000377783.3:n.727+42_727+54del
ENST00000407433.6:c.682+42_682+54del	ENSP00000385794.2:n.682+42_682+54del
ENST00000647936.1:c.727+42_727+54del	ENSP00000496822.1:n.727+42_727+54del
ENST00000648381.1:n.895+42_895+54del
ENST00000648853.1:c.685+42_685+54del	ENSP00000497262.1:n.685+42_685+54del
ENST00000649103.1:c.826+42_826+54del	ENSP00000497962.1:n.826+42_826+54del
ENST00000650591.1:c.823+42_823+54del	ENSP00000497376.1:n.823+42_823+54del
ENST00000394236.7:c.727+42_727+54del	ENSP00000377783.3:n.727+42_727+54del
ENST00000407433.5:c.334+42_334+54del	ENSP00000385794.1:n.334+42_334+54del
NM_000313.3:c.727+42_727+54del , LRG_572t1:c.727+42_727+54del	NP_000304.2:n.727+42_727+54del
NM_001314077.1:c.823+42_823+54del , LRG_572t2:c.823+42_823+54del	NP_001301006.1:n.823+42_823+54del
NM_000313.4:c.727+42_727+54del MANE Select	NP_000304.2:n.727+42_727+54del
NM_001314077.2:c.823+42_823+54del	NP_001301006.1:n.823+42_823+54del