Canonical Allele Identifier: CA9443659

Gene: PRX

Linked Data

• ClinVar Variation Id: 543381
• ClinVar RCV Id: RCV000654129 ; RCV001288694 ; RCV002331269
• dbSNP Id: rs771234852
• ExAC: 19:40900012 G / GACA
• gnomAD v2: 19-40900012-G-GACA
• gnomAD v3: 19-40394105-G-GACA
• gnomAD v4: 19-40394105-G-GACA
• MyVariant Identifiers: chr19:g.40900013_40900015dup (hg19) ; chr19:g.40900012_40900013insACA (hg19) ; chr19:g.40394106_40394108dup (hg38) ; chr19:g.40394105_40394106insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394106_40394108dup , CM000681.2:g.40394106_40394108dup	GRCh38
NC_000019.9:g.40900013_40900015dup , CM000681.1:g.40900013_40900015dup	GRCh37
NC_000019.8:g.45591853_45591855dup	NCBI36
NG_007979.1:g.24257_24259dup , LRG_265:g.24257_24259dup
NG_051224.1:g.1114_1116dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.4244_4246dup MANE Select	ENSP00000326018.6:p.Val1415_Ser1416insLeu
ENST00000673881.1:c.3827_3829dup	ENSP00000501070.1:p.Val1276_Ser1277insLeu
ENST00000674005.2:c.4529_4531dup	ENSP00000501261.1:p.Val1510_Ser1511insLeu
ENST00000674773.1:c.3827_3829dup	ENSP00000502579.1:p.Val1276_Ser1277insLeu
ENST00000675517.1:c.4119_4121dup
ENST00000676076.1:c.4105_4107dup
ENST00000676260.1:c.4206_4208dup
ENST00000676316.1:c.4131_4133dup
ENST00000291825.11:c.*4449_*4451dup	ENSP00000291825.6:n.*4449_*4451dup
ENST00000324001.7:c.4244_4246dup	ENSP00000326018.6:p.Val1415_Ser1416insLeu
NM_020956.2:c.*4449_*4451dup , LRG_265t1:c.*4449_*4451dup	NP_066007.1:n.*4449_*4451dup
NM_181882.2:c.4244_4246dup , LRG_265t2:c.4244_4246dup	NP_870998.2:p.Val1415_Ser1416insLeu
XM_011527171.1:c.4244_4246dup	XP_011525473.1:p.Val1415_Ser1416insLeu
XM_011527171.2:c.4244_4246dup	XP_011525473.1:p.Val1415_Ser1416insLeu
XM_017027046.1:c.4142_4144dup	XP_016882535.1:p.Val1381_Ser1382insLeu
XM_017027047.1:c.4142_4144dup	XP_016882536.1:p.Val1381_Ser1382insLeu
NM_181882.3:c.4244_4246dup MANE Select	NP_870998.2:p.Val1415_Ser1416insLeu