Canonical Allele Identifier: CA507678707

Gene: PRX

Linked Data

• ClinVar Variation Id: 448139
• ClinVar RCV Id: RCV000517932 ; RCV001172753 ; RCV001217420
• dbSNP Id: rs1555800610
• gnomAD v2: 19-40900902-ACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT-A
• gnomAD v3: 19-40394995-ACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT-A
• gnomAD v4: 19-40394995-ACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT-A
• MyVariant Identifiers: chr19:g.40900903_40900973del (hg19) ; chr19:g.40394996_40395066del (hg38)
• PubMed: PMID:18410371

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394998_40395068del , CM000681.2:g.40394998_40395068del	GRCh38
NC_000019.9:g.40900905_40900975del , CM000681.1:g.40900905_40900975del	GRCh37
NC_000019.8:g.45592745_45592815del	NCBI36
NG_007979.1:g.23299_23369del , LRG_265:g.23299_23369del
NG_051224.1:g.156_226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3286_3356del MANE Select	ENSP00000326018.6:p.Ile1096TrpfsTer18
ENST00000673881.1:c.2869_2939del	ENSP00000501070.1:p.Ile957TrpfsTer18
ENST00000674005.2:c.3571_3641del	ENSP00000501261.1:p.Ile1191TrpfsTer18
ENST00000674773.1:c.2869_2939del	ENSP00000502579.1:p.Ile957TrpfsTer18
ENST00000675517.1:c.3161_3231del
ENST00000676076.1:c.3147_3217del
ENST00000676260.1:c.3248_3318del
ENST00000676316.1:c.3173_3243del
ENST00000291825.11:c.*3491_*3561del	ENSP00000291825.6:n.*3491_*3561del
ENST00000324001.7:c.3286_3356del	ENSP00000326018.6:p.Ile1096TrpfsTer18
NM_020956.2:c.*3491_*3561del , LRG_265t1:c.*3491_*3561del	NP_066007.1:n.*3491_*3561del
NM_181882.2:c.3286_3356del , LRG_265t2:c.3286_3356del	NP_870998.2:p.Ile1096TrpfsTer18
XM_011527171.1:c.3286_3356del	XP_011525473.1:p.Ile1096TrpfsTer18
XM_011527171.2:c.3286_3356del	XP_011525473.1:p.Ile1096TrpfsTer18
XM_017027046.1:c.3184_3254del	XP_016882535.1:p.Ile1062TrpfsTer18
XM_017027047.1:c.3184_3254del	XP_016882536.1:p.Ile1062TrpfsTer18
NM_181882.3:c.3286_3356del MANE Select	NP_870998.2:p.Ile1096TrpfsTer18