Canonical Allele Identifier: CA912683374

Gene: PROS1

Linked Data

• dbSNP Id: rs1286682490
• gnomAD v4: 3-93874190-AACATAAGTATAATT-A
• MyVariant Identifiers: chr3:g.93593035_93593048del (hg19) ; chr3:g.93874191_93874204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874194_93874207del , CM000665.2:g.93874194_93874207del	GRCh38
NC_000003.11:g.93593038_93593051del , CM000665.1:g.93593038_93593051del	GRCh37
NC_000003.10:g.95075728_95075741del	NCBI36
NG_009813.1:g.104887_104900del , LRG_572:g.104887_104900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+40_*1+53del	ENSP00000330021.7:n.*1+40_*1+53del
ENST00000394236.9:c.*41_*54del MANE Select	ENSP00000377783.3:n.*41_*54del
ENST00000407433.6:c.*41_*54del	ENSP00000385794.2:n.*41_*54del
ENST00000647936.1:c.*175_*188del	ENSP00000496822.1:n.*175_*188del
ENST00000648381.1:n.2240_2253del
ENST00000648853.1:c.*41_*54del	ENSP00000497262.1:n.*41_*54del
ENST00000650591.1:c.*41_*54del	ENSP00000497376.1:n.*41_*54del
ENST00000394236.7:c.*41_*54del	ENSP00000377783.3:n.*41_*54del
ENST00000407433.5:c.*41_*54del	ENSP00000385794.1:n.*41_*54del
NM_000313.3:c.*41_*54del , LRG_572t1:c.*41_*54del	NP_000304.2:n.*41_*54del
NM_001314077.1:c.*41_*54del , LRG_572t2:c.*41_*54del	NP_001301006.1:n.*41_*54del
NM_000313.4:c.*41_*54del MANE Select	NP_000304.2:n.*41_*54del
NM_001314077.2:c.*41_*54del	NP_001301006.1:n.*41_*54del