Canonical Allele Identifier: CA633466283

Gene: PRX

Linked Data

• dbSNP Id: rs1344125979
• gnomAD v2: 19-40900925-CCCTCCCTT-C
• gnomAD v3: 19-40395018-CCCTCCCTT-C
• gnomAD v4: 19-40395018-CCCTCCCTT-C
• MyVariant Identifiers: chr19:g.40900926_40900933del (hg19) ; chr19:g.40395019_40395026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395024_40395031del , CM000681.2:g.40395024_40395031del	GRCh38
NC_000019.9:g.40900931_40900938del , CM000681.1:g.40900931_40900938del	GRCh37
NC_000019.8:g.45592771_45592778del	NCBI36
NG_007979.1:g.23339_23346del , LRG_265:g.23339_23346del
NG_051224.1:g.196_203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3326_3333del MANE Select	ENSP00000326018.6:p.Glu1109GlyfsTer26
ENST00000673881.1:c.2909_2916del	ENSP00000501070.1:p.Glu970GlyfsTer26
ENST00000674005.2:c.3611_3618del	ENSP00000501261.1:p.Glu1204GlyfsTer26
ENST00000674773.1:c.2909_2916del	ENSP00000502579.1:p.Glu970GlyfsTer26
ENST00000675517.1:c.3201_3208del
ENST00000676076.1:c.3187_3194del
ENST00000676260.1:c.3288_3295del
ENST00000676316.1:c.3213_3220del
ENST00000291825.11:c.*3531_*3538del	ENSP00000291825.6:n.*3531_*3538del
ENST00000324001.7:c.3326_3333del	ENSP00000326018.6:p.Glu1109GlyfsTer26
NM_020956.2:c.*3531_*3538del , LRG_265t1:c.*3531_*3538del	NP_066007.1:n.*3531_*3538del
NM_181882.2:c.3326_3333del , LRG_265t2:c.3326_3333del	NP_870998.2:p.Glu1109GlyfsTer26
XM_011527171.1:c.3326_3333del	XP_011525473.1:p.Glu1109GlyfsTer26
XM_011527171.2:c.3326_3333del	XP_011525473.1:p.Glu1109GlyfsTer26
XM_017027046.1:c.3224_3231del	XP_016882535.1:p.Glu1075GlyfsTer26
XM_017027047.1:c.3224_3231del	XP_016882536.1:p.Glu1075GlyfsTer26
NM_181882.3:c.3326_3333del MANE Select	NP_870998.2:p.Glu1109GlyfsTer26