Canonical Allele Identifier: CA1050939057

Gene: PROS1

Linked Data

• gnomAD v3: 3-93878839-T-TTTTTTTTTTTTTTTTTTTTTTTTAGGC
• gnomAD v4: 3-93878839-T-TTTTTTTTTTTTTTTTTTTTTTTTAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCT , CM000665.2:g.93878840_93878841insTTTTTTTTTTTTTTTTTTTTTTAGGCT	GRCh38
NC_000003.11:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCT , CM000665.1:g.93597684_93597685insTTTTTTTTTTTTTTTTTTTTTTAGGCT	GRCh37
NC_000003.10:g.95080374_95080375insTTTTTTTTTTTTTTTTTTTTTTAGGCT	NCBI36
NG_009813.1:g.100251_100252insGCCTAAAAAAAAAAAAAAAAAAAAAAA , LRG_572:g.100251_100252insGCCTAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000330021.7:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000394236.9:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000377783.3:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000407433.6:c.1599+323_1599+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000385794.2:n.1599+323_1599+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000647936.1:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000496822.1:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000648381.1:n.1812+323_1812+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA
ENST00000648853.1:c.1602+323_1602+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497262.1:n.1602+323_1602+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000649103.1:c.1743+323_1743+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497962.1:n.1743+323_1743+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000649585.1:c.587+323_587+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000498163.1:n.587+323_587+324insGCCTAAAAAAAAAAAAAAAAAAA...
ENST00000650591.1:c.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497376.1:n.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000394236.7:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000377783.3:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAA...
ENST00000407433.5:c.1251+323_1251+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000385794.1:n.1251+323_1251+324insGCCTAAAAAAAAAAAAAAAAA...
NM_000313.3:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA , LRG_572t1:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	NP_000304.2:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA...
NM_001314077.1:c.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA , LRG_572t2:c.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAA...
NM_000313.4:c.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_000304.2:n.1644+323_1644+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA...
NM_001314077.2:c.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+323_1740+324insGCCTAAAAAAAAAAAAAAAAAAAA...