Canonical Allele Identifier: CA915953014

Gene: PRX

Linked Data

• ClinVar Variation Id: 637402
• ClinVar RCV Id: RCV000789548 ; RCV000990217 ; RCV001008813 ; RCV003117579
• dbSNP Id: rs1599651549
• gnomAD v4: 19-40395153-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395156del , CM000681.2:g.40395156del	GRCh38
NC_000019.9:g.40901063del , CM000681.1:g.40901063del	GRCh37
NC_000019.8:g.45592903del	NCBI36
NG_007979.1:g.23211del , LRG_265:g.23211del
NG_051224.1:g.68del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3198del MANE Select	ENSP00000326018.6:p.Phe1066LeufsTer?
ENST00000673881.1:c.2781del	ENSP00000501070.1:p.Phe927LeufsTer?
ENST00000674005.2:c.3483del	ENSP00000501261.1:p.Phe1161LeufsTer?
ENST00000674773.1:c.2781del	ENSP00000502579.1:p.Phe927LeufsTer?
ENST00000675517.1:c.3073del
ENST00000676076.1:c.3059del
ENST00000676260.1:c.3160del
ENST00000676316.1:c.3085del
ENST00000291825.11:c.*3403del	ENSP00000291825.6:n.*3403del
ENST00000324001.7:c.3198del	ENSP00000326018.6:p.Phe1066LeufsTer?
NM_020956.2:c.*3403del , LRG_265t1:c.*3403del	NP_066007.1:n.*3403del
NM_181882.2:c.3198del , LRG_265t2:c.3198del	NP_870998.2:p.Phe1066LeufsTer?
XM_011527171.1:c.3198del	XP_011525473.1:p.Phe1066LeufsTer?
XM_011527171.2:c.3198del	XP_011525473.1:p.Phe1066LeufsTer?
XM_017027046.1:c.3096del	XP_016882535.1:p.Phe1032LeufsTer?
XM_017027047.1:c.3096del	XP_016882536.1:p.Phe1032LeufsTer?
NM_181882.3:c.3198del MANE Select	NP_870998.2:p.Phe1066LeufsTer?