Canonical Allele Identifier: CA995889364

Gene: PRX

Linked Data

• gnomAD v3: 19-40396181-AG-A
• gnomAD v4: 19-40396181-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396182del , CM000681.2:g.40396182del	GRCh38
NC_000019.9:g.40902089del , CM000681.1:g.40902089del	GRCh37
NC_000019.8:g.45593929del	NCBI36
NG_007979.1:g.22183del , LRG_265:g.22183del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2170del MANE Select	ENSP00000326018.6:p.Leu724SerfsTer4
ENST00000673881.1:c.1753del	ENSP00000501070.1:p.Leu585SerfsTer4
ENST00000674005.2:c.2455del	ENSP00000501261.1:p.Leu819SerfsTer4
ENST00000674773.1:c.1753del	ENSP00000502579.1:p.Leu585SerfsTer4
ENST00000675517.1:c.2045del
ENST00000676076.1:c.2031del
ENST00000676260.1:c.2132del
ENST00000676316.1:c.2057del
ENST00000291825.11:c.*2375del	ENSP00000291825.6:n.*2375del
ENST00000324001.7:c.2170del	ENSP00000326018.6:p.Leu724SerfsTer4
NM_020956.2:c.*2375del , LRG_265t1:c.*2375del	NP_066007.1:n.*2375del
NM_181882.2:c.2170del , LRG_265t2:c.2170del	NP_870998.2:p.Leu724SerfsTer4
XM_011527171.1:c.2170del	XP_011525473.1:p.Leu724SerfsTer4
XM_011527171.2:c.2170del	XP_011525473.1:p.Leu724SerfsTer4
XM_017027046.1:c.2068del	XP_016882535.1:p.Leu690SerfsTer4
XM_017027047.1:c.2068del	XP_016882536.1:p.Leu690SerfsTer4
NM_181882.3:c.2170del MANE Select	NP_870998.2:p.Leu724SerfsTer4