Canonical Allele Identifier: CA995889434

Gene: PRX

Linked Data

• gnomAD v3: 19-40396231-TGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCC-T
• gnomAD v4: 19-40396231-TGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396252_40396407del , CM000681.2:g.40396252_40396407del	GRCh38
NC_000019.9:g.40902159_40902314del , CM000681.1:g.40902159_40902314del	GRCh37
NC_000019.8:g.45593999_45594154del	NCBI36
NG_007979.1:g.21978_22133del , LRG_265:g.21978_22133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1965_2120del MANE Select	ENSP00000326018.6:p.Glu656_Pro707del
ENST00000673881.1:c.1548_1703del	ENSP00000501070.1:p.Glu517_Pro568del
ENST00000674005.2:c.2250_2405del	ENSP00000501261.1:p.Glu751_Pro802del
ENST00000674773.1:c.1548_1703del	ENSP00000502579.1:p.Glu517_Pro568del
ENST00000675517.1:c.1840_1995del
ENST00000676076.1:c.1826_1981del
ENST00000676260.1:c.1927_2082del
ENST00000676316.1:c.1852_2007del
ENST00000291825.11:c.*2170_*2325del	ENSP00000291825.6:n.*2170_*2325del
ENST00000324001.7:c.1965_2120del	ENSP00000326018.6:p.Glu656_Pro707del
NM_020956.2:c.*2170_*2325del , LRG_265t1:c.*2170_*2325del	NP_066007.1:n.*2170_*2325del
NM_181882.2:c.1965_2120del , LRG_265t2:c.1965_2120del	NP_870998.2:p.Glu656_Pro707del
XM_011527171.1:c.1965_2120del	XP_011525473.1:p.Glu656_Pro707del
XM_011527171.2:c.1965_2120del	XP_011525473.1:p.Glu656_Pro707del
XM_017027046.1:c.1863_2018del	XP_016882535.1:p.Glu622_Pro673del
XM_017027047.1:c.1863_2018del	XP_016882536.1:p.Glu622_Pro673del
NM_181882.3:c.1965_2120del MANE Select	NP_870998.2:p.Glu656_Pro707del