Canonical Allele Identifier: CA16616049

Gene: PRX

Linked Data

• ClinVar Variation Id: 410606
• ClinVar RCV Id: RCV000462384 ; RCV000522870 ; RCV000791177 ; RCV002393143
• dbSNP Id: rs1555801137
• gnomAD v2: 19-40902698-GTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTC-G
• gnomAD v3: 19-40396791-GTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTC-G
• gnomAD v4: 19-40396791-GTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTC-G
• MyVariant Identifiers: chr19:g.40902699_40902776del (hg19) ; chr19:g.40396792_40396869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396858_40396935del , CM000681.2:g.40396858_40396935del	GRCh38
NC_000019.9:g.40902765_40902842del , CM000681.1:g.40902765_40902842del	GRCh37
NC_000019.8:g.45594605_45594682del	NCBI36
NG_007979.1:g.21496_21573del , LRG_265:g.21496_21573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1483_1560del MANE Select	ENSP00000326018.6:p.Glu495_Val520del
ENST00000673881.1:c.1066_1143del	ENSP00000501070.1:p.Glu356_Val381del
ENST00000674005.2:c.1768_1845del	ENSP00000501261.1:p.Glu590_Val615del
ENST00000674773.1:c.1066_1143del	ENSP00000502579.1:p.Glu356_Val381del
ENST00000675517.1:c.1358_1435del
ENST00000676076.1:c.1344_1421del
ENST00000676260.1:c.1445_1522del
ENST00000676316.1:c.1370_1447del
ENST00000291825.11:c.*1688_*1765del	ENSP00000291825.6:n.*1688_*1765del
ENST00000324001.7:c.1483_1560del	ENSP00000326018.6:p.Glu495_Val520del
NM_020956.2:c.*1688_*1765del , LRG_265t1:c.*1688_*1765del	NP_066007.1:n.*1688_*1765del
NM_181882.2:c.1483_1560del , LRG_265t2:c.1483_1560del	NP_870998.2:p.Glu495_Val520del
XM_011527171.1:c.1483_1560del	XP_011525473.1:p.Glu495_Val520del
XM_011527171.2:c.1483_1560del	XP_011525473.1:p.Glu495_Val520del
XM_017027046.1:c.1381_1458del	XP_016882535.1:p.Glu461_Val486del
XM_017027047.1:c.1381_1458del	XP_016882536.1:p.Glu461_Val486del
NM_181882.3:c.1483_1560del MANE Select	NP_870998.2:p.Glu495_Val520del