Canonical Allele Identifier: CA633466290

Gene: PRX

Linked Data

• dbSNP Id: rs1568706401
• gnomAD v2: 19-40902030-GGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT-G
• gnomAD v3: 19-40396123-GGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT-G
• gnomAD v4: 19-40396123-GGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT-G
• MyVariant Identifiers: chr19:g.40902031_40902138del (hg19) ; chr19:g.40396124_40396231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396144_40396251del , CM000681.2:g.40396144_40396251del	GRCh38
NC_000019.9:g.40902051_40902158del , CM000681.1:g.40902051_40902158del	GRCh37
NC_000019.8:g.45593891_45593998del	NCBI36
NG_007979.1:g.22134_22241del , LRG_265:g.22134_22241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2121_2228del MANE Select	ENSP00000326018.6:p.Glu708_Pro743del
ENST00000673881.1:c.1704_1811del	ENSP00000501070.1:p.Glu569_Pro604del
ENST00000674005.2:c.2406_2513del	ENSP00000501261.1:p.Glu803_Pro838del
ENST00000674773.1:c.1704_1811del	ENSP00000502579.1:p.Glu569_Pro604del
ENST00000675517.1:c.1996_2103del
ENST00000676076.1:c.1982_2089del
ENST00000676260.1:c.2083_2190del
ENST00000676316.1:c.2008_2115del
ENST00000291825.11:c.*2326_*2433del	ENSP00000291825.6:n.*2326_*2433del
ENST00000324001.7:c.2121_2228del	ENSP00000326018.6:p.Glu708_Pro743del
NM_020956.2:c.*2326_*2433del , LRG_265t1:c.*2326_*2433del	NP_066007.1:n.*2326_*2433del
NM_181882.2:c.2121_2228del , LRG_265t2:c.2121_2228del	NP_870998.2:p.Glu708_Pro743del
XM_011527171.1:c.2121_2228del	XP_011525473.1:p.Glu708_Pro743del
XM_011527171.2:c.2121_2228del	XP_011525473.1:p.Glu708_Pro743del
XM_017027046.1:c.2019_2126del	XP_016882535.1:p.Glu674_Pro709del
XM_017027047.1:c.2019_2126del	XP_016882536.1:p.Glu674_Pro709del
NM_181882.3:c.2121_2228del MANE Select	NP_870998.2:p.Glu708_Pro743del