Canonical Allele Identifier: CA995889314

Gene: PRX

Linked Data

• gnomAD v3: 19-40396150-CTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATT-C
• gnomAD v4: 19-40396150-CTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396171_40396278del , CM000681.2:g.40396171_40396278del	GRCh38
NC_000019.9:g.40902078_40902185del , CM000681.1:g.40902078_40902185del	GRCh37
NC_000019.8:g.45593918_45594025del	NCBI36
NG_007979.1:g.22107_22214del , LRG_265:g.22107_22214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2094_2201del MANE Select	ENSP00000326018.6:p.Met699_Glu734del
ENST00000673881.1:c.1677_1784del	ENSP00000501070.1:p.Met560_Glu595del
ENST00000674005.2:c.2379_2486del	ENSP00000501261.1:p.Met794_Glu829del
ENST00000674773.1:c.1677_1784del	ENSP00000502579.1:p.Met560_Glu595del
ENST00000675517.1:c.1969_2076del
ENST00000676076.1:c.1955_2062del
ENST00000676260.1:c.2056_2163del
ENST00000676316.1:c.1981_2088del
ENST00000291825.11:c.*2299_*2406del	ENSP00000291825.6:n.*2299_*2406del
ENST00000324001.7:c.2094_2201del	ENSP00000326018.6:p.Met699_Glu734del
NM_020956.2:c.*2299_*2406del , LRG_265t1:c.*2299_*2406del	NP_066007.1:n.*2299_*2406del
NM_181882.2:c.2094_2201del , LRG_265t2:c.2094_2201del	NP_870998.2:p.Met699_Glu734del
XM_011527171.1:c.2094_2201del	XP_011525473.1:p.Met699_Glu734del
XM_011527171.2:c.2094_2201del	XP_011525473.1:p.Met699_Glu734del
XM_017027046.1:c.1992_2099del	XP_016882535.1:p.Met665_Glu700del
XM_017027047.1:c.1992_2099del	XP_016882536.1:p.Met665_Glu700del
NM_181882.3:c.2094_2201del MANE Select	NP_870998.2:p.Met699_Glu734del