Canonical Allele Identifier: CA995889408

Gene: PRX

Linked Data

• gnomAD v3: 19-40396228-CTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACT-C
• gnomAD v4: 19-40396228-CTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396258_40396521del , CM000681.2:g.40396258_40396521del	GRCh38
NC_000019.9:g.40902165_40902428del , CM000681.1:g.40902165_40902428del	GRCh37
NC_000019.8:g.45594005_45594268del	NCBI36
NG_007979.1:g.21873_22136del , LRG_265:g.21873_22136del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1860_2123del MANE Select	ENSP00000326018.6:p.Val621_Glu708del
ENST00000673881.1:c.1443_1706del	ENSP00000501070.1:p.Val482_Glu569del
ENST00000674005.2:c.2145_2408del	ENSP00000501261.1:p.Val716_Glu803del
ENST00000674773.1:c.1443_1706del	ENSP00000502579.1:p.Val482_Glu569del
ENST00000675517.1:c.1735_1998del
ENST00000676076.1:c.1721_1984del
ENST00000676260.1:c.1822_2085del
ENST00000676316.1:c.1747_2010del
ENST00000291825.11:c.*2065_*2328del	ENSP00000291825.6:n.*2065_*2328del
ENST00000324001.7:c.1860_2123del	ENSP00000326018.6:p.Val621_Glu708del
NM_020956.2:c.*2065_*2328del , LRG_265t1:c.*2065_*2328del	NP_066007.1:n.*2065_*2328del
NM_181882.2:c.1860_2123del , LRG_265t2:c.1860_2123del	NP_870998.2:p.Val621_Glu708del
XM_011527171.1:c.1860_2123del	XP_011525473.1:p.Val621_Glu708del
XM_011527171.2:c.1860_2123del	XP_011525473.1:p.Val621_Glu708del
XM_017027046.1:c.1758_2021del	XP_016882535.1:p.Val587_Glu674del
XM_017027047.1:c.1758_2021del	XP_016882536.1:p.Val587_Glu674del
NM_181882.3:c.1860_2123del MANE Select	NP_870998.2:p.Val621_Glu708del