Canonical Allele Identifier: CA633466295

Gene: PRX

Linked Data

• dbSNP Id: rs1181654313
• gnomAD v2: 19-40901937-C-CG
• gnomAD v4: 19-40396030-C-CG
• MyVariant Identifiers: chr19:g.40901937_40901938insG (hg19) ; chr19:g.40396030_40396031insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396030_40396031insG , CM000681.2:g.40396030_40396031insG	GRCh38
NC_000019.9:g.40901937_40901938insG , CM000681.1:g.40901937_40901938insG	GRCh37
NC_000019.8:g.45593777_45593778insG	NCBI36
NG_007979.1:g.22334_22335insC , LRG_265:g.22334_22335insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2321_2322insC MANE Select	ENSP00000326018.6:p.Lys775GlufsTer?
ENST00000673881.1:c.1904_1905insC	ENSP00000501070.1:p.Lys636GlufsTer?
ENST00000674005.2:c.2606_2607insC	ENSP00000501261.1:p.Lys870GlufsTer?
ENST00000674773.1:c.1904_1905insC	ENSP00000502579.1:p.Lys636GlufsTer?
ENST00000675517.1:c.2196_2197insC
ENST00000676076.1:c.2182_2183insC
ENST00000676260.1:c.2283_2284insC
ENST00000676316.1:c.2208_2209insC
ENST00000291825.11:c.*2526_*2527insC	ENSP00000291825.6:n.*2526_*2527insC
ENST00000324001.7:c.2321_2322insC	ENSP00000326018.6:p.Lys775GlufsTer?
NM_020956.2:c.*2526_*2527insC , LRG_265t1:c.*2526_*2527insC	NP_066007.1:n.*2526_*2527insC
NM_181882.2:c.2321_2322insC , LRG_265t2:c.2321_2322insC	NP_870998.2:p.Lys775GlufsTer?
XM_011527171.1:c.2321_2322insC	XP_011525473.1:p.Lys775GlufsTer?
XM_011527171.2:c.2321_2322insC	XP_011525473.1:p.Lys775GlufsTer?
XM_017027046.1:c.2219_2220insC	XP_016882535.1:p.Lys741GlufsTer?
XM_017027047.1:c.2219_2220insC	XP_016882536.1:p.Lys741GlufsTer?
NM_181882.3:c.2321_2322insC MANE Select	NP_870998.2:p.Lys775GlufsTer?