Canonical Allele Identifier: CA645369783

Gene: PRX

Linked Data

• ClinVar Variation Id: 429513
• ClinVar RCV Id: RCV000494346
• dbSNP Id: rs1131691425
• MyVariant Identifiers: chr19:g.40901975_40901977del (hg19) ; chr19:g.40396068_40396070del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396068_40396070del , CM000681.2:g.40396068_40396070del	GRCh38
NC_000019.9:g.40901975_40901977del , CM000681.1:g.40901975_40901977del	GRCh37
NC_000019.8:g.45593815_45593817del	NCBI36
NG_007979.1:g.22295_22297del , LRG_265:g.22295_22297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2282_2284del MANE Select	ENSP00000326018.6:p.Pro761_Lys762delinsGln
ENST00000673881.1:c.1865_1867del	ENSP00000501070.1:p.Pro622_Lys623delinsGln
ENST00000674005.2:c.2567_2569del	ENSP00000501261.1:p.Pro856_Lys857delinsGln
ENST00000674773.1:c.1865_1867del	ENSP00000502579.1:p.Pro622_Lys623delinsGln
ENST00000675517.1:c.2157_2159del
ENST00000676076.1:c.2143_2145del
ENST00000676260.1:c.2244_2246del
ENST00000676316.1:c.2169_2171del
ENST00000291825.11:c.*2487_*2489del	ENSP00000291825.6:n.*2487_*2489del
ENST00000324001.7:c.2282_2284del	ENSP00000326018.6:p.Pro761_Lys762delinsGln
NM_020956.2:c.*2487_*2489del , LRG_265t1:c.*2487_*2489del	NP_066007.1:n.*2487_*2489del
NM_181882.2:c.2282_2284del , LRG_265t2:c.2282_2284del	NP_870998.2:p.Pro761_Lys762delinsGln
XM_011527171.1:c.2282_2284del	XP_011525473.1:p.Pro761_Lys762delinsGln
XM_011527171.2:c.2282_2284del	XP_011525473.1:p.Pro761_Lys762delinsGln
XM_017027046.1:c.2180_2182del	XP_016882535.1:p.Pro727_Lys728delinsGln
XM_017027047.1:c.2180_2182del	XP_016882536.1:p.Pro727_Lys728delinsGln
NM_181882.3:c.2282_2284del MANE Select	NP_870998.2:p.Pro761_Lys762delinsGln