Canonical Allele Identifier: CA1050939050

Gene: PROS1

Linked Data

• gnomAD v3: 3-93878838-C-CTTTTTTTTTTTTTTTTTT
• gnomAD v4: 3-93878838-C-CTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93878840_93878841insTTTTTTTTTTTTTTTTTT , CM000665.2:g.93878840_93878841insTTTTTTTTTTTTTTTTTT	GRCh38
NC_000003.11:g.93597684_93597685insTTTTTTTTTTTTTTTTTT , CM000665.1:g.93597684_93597685insTTTTTTTTTTTTTTTTTT	GRCh37
NC_000003.10:g.95080374_95080375insTTTTTTTTTTTTTTTTTT	NCBI36
NG_009813.1:g.100252_100253insAAAAAAAAAAAAAAAAAA , LRG_572:g.100252_100253insAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA	ENSP00000330021.7:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
ENST00000394236.9:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000377783.3:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
ENST00000407433.6:c.1599+324_1599+325insAAAAAAAAAAAAAAAAAA	ENSP00000385794.2:n.1599+324_1599+325insAAAAAAAAAAAAAAAAAA
ENST00000647936.1:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA	ENSP00000496822.1:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
ENST00000648381.1:n.1812+324_1812+325insAAAAAAAAAAAAAAAAAA
ENST00000648853.1:c.1602+324_1602+325insAAAAAAAAAAAAAAAAAA	ENSP00000497262.1:n.1602+324_1602+325insAAAAAAAAAAAAAAAAAA
ENST00000649103.1:c.1743+324_1743+325insAAAAAAAAAAAAAAAAAA	ENSP00000497962.1:n.1743+324_1743+325insAAAAAAAAAAAAAAAAAA
ENST00000649585.1:c.587+324_587+325insAAAAAAAAAAAAAAAAAA	ENSP00000498163.1:n.587+324_587+325insAAAAAAAAAAAAAAAAAA
ENST00000650591.1:c.1740+324_1740+325insAAAAAAAAAAAAAAAAAA	ENSP00000497376.1:n.1740+324_1740+325insAAAAAAAAAAAAAAAAAA
ENST00000394236.7:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA	ENSP00000377783.3:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
ENST00000407433.5:c.1251+324_1251+325insAAAAAAAAAAAAAAAAAA	ENSP00000385794.1:n.1251+324_1251+325insAAAAAAAAAAAAAAAAAA
NM_000313.3:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA , LRG_572t1:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA	NP_000304.2:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
NM_001314077.1:c.1740+324_1740+325insAAAAAAAAAAAAAAAAAA , LRG_572t2:c.1740+324_1740+325insAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+324_1740+325insAAAAAAAAAAAAAAAAAA
NM_000313.4:c.1644+324_1644+325insAAAAAAAAAAAAAAAAAA MANE Select	NP_000304.2:n.1644+324_1644+325insAAAAAAAAAAAAAAAAAA
NM_001314077.2:c.1740+324_1740+325insAAAAAAAAAAAAAAAAAA	NP_001301006.1:n.1740+324_1740+325insAAAAAAAAAAAAAAAAAA