Canonical Allele Identifier: CA633466294

Gene: PRX

Linked Data

• gnomAD v2: 19-40902212-CCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCAT-C
• gnomAD v3: 19-40396305-CCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCAT-C
• gnomAD v4: 19-40396305-CCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCAT-C
• MyVariant Identifiers: chr19:g.40902213_40902251del (hg19) ; chr19:g.40396306_40396344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396306_40396344del , CM000681.2:g.40396306_40396344del	GRCh38
NC_000019.9:g.40902213_40902251del , CM000681.1:g.40902213_40902251del	GRCh37
NC_000019.8:g.45594053_45594091del	NCBI36
NG_007979.1:g.22021_22059del , LRG_265:g.22021_22059del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2008_2046del MANE Select	ENSP00000326018.6:p.Met670_Glu682del
ENST00000673881.1:c.1591_1629del	ENSP00000501070.1:p.Met531_Glu543del
ENST00000674005.2:c.2293_2331del	ENSP00000501261.1:p.Met765_Glu777del
ENST00000674773.1:c.1591_1629del	ENSP00000502579.1:p.Met531_Glu543del
ENST00000675517.1:c.1883_1921del
ENST00000676076.1:c.1869_1907del
ENST00000676260.1:c.1970_2008del
ENST00000676316.1:c.1895_1933del
ENST00000291825.11:c.*2213_*2251del	ENSP00000291825.6:n.*2213_*2251del
ENST00000324001.7:c.2008_2046del	ENSP00000326018.6:p.Met670_Glu682del
NM_020956.2:c.*2213_*2251del , LRG_265t1:c.*2213_*2251del	NP_066007.1:n.*2213_*2251del
NM_181882.2:c.2008_2046del , LRG_265t2:c.2008_2046del	NP_870998.2:p.Met670_Glu682del
XM_011527171.1:c.2008_2046del	XP_011525473.1:p.Met670_Glu682del
XM_011527171.2:c.2008_2046del	XP_011525473.1:p.Met670_Glu682del
XM_017027046.1:c.1906_1944del	XP_016882535.1:p.Met636_Glu648del
XM_017027047.1:c.1906_1944del	XP_016882536.1:p.Met636_Glu648del
NM_181882.3:c.2008_2046del MANE Select	NP_870998.2:p.Met670_Glu682del