Canonical Allele Identifier: CA995889216

Gene: PRX

Linked Data

• gnomAD v3: 19-40396108-CGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTG-C
• gnomAD v4: 19-40396108-CGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396123_40396230del , CM000681.2:g.40396123_40396230del	GRCh38
NC_000019.9:g.40902030_40902137del , CM000681.1:g.40902030_40902137del	GRCh37
NC_000019.8:g.45593870_45593977del	NCBI36
NG_007979.1:g.22149_22256del , LRG_265:g.22149_22256del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2136_2243del MANE Select	ENSP00000326018.6:p.Lys713_Pro748del
ENST00000673881.1:c.1719_1826del	ENSP00000501070.1:p.Lys574_Pro609del
ENST00000674005.2:c.2421_2528del	ENSP00000501261.1:p.Lys808_Pro843del
ENST00000674773.1:c.1719_1826del	ENSP00000502579.1:p.Lys574_Pro609del
ENST00000675517.1:c.2011_2118del
ENST00000676076.1:c.1997_2104del
ENST00000676260.1:c.2098_2205del
ENST00000676316.1:c.2023_2130del
ENST00000291825.11:c.*2341_*2448del	ENSP00000291825.6:n.*2341_*2448del
ENST00000324001.7:c.2136_2243del	ENSP00000326018.6:p.Lys713_Pro748del
NM_020956.2:c.*2341_*2448del , LRG_265t1:c.*2341_*2448del	NP_066007.1:n.*2341_*2448del
NM_181882.2:c.2136_2243del , LRG_265t2:c.2136_2243del	NP_870998.2:p.Lys713_Pro748del
XM_011527171.1:c.2136_2243del	XP_011525473.1:p.Lys713_Pro748del
XM_011527171.2:c.2136_2243del	XP_011525473.1:p.Lys713_Pro748del
XM_017027046.1:c.2034_2141del	XP_016882535.1:p.Lys679_Pro714del
XM_017027047.1:c.2034_2141del	XP_016882536.1:p.Lys679_Pro714del
NM_181882.3:c.2136_2243del MANE Select	NP_870998.2:p.Lys713_Pro748del