Canonical Allele Identifier: CA9444310

Gene: PRX

Linked Data

• ClinVar Variation Id: 637391
• ClinVar RCV Id: RCV000789535
• dbSNP Id: rs757771239
• ExAC: 19:40903085 GA / G
• gnomAD v2: 19-40903085-GA-G
• gnomAD v3: 19-40397178-GA-G
• gnomAD v4: 19-40397178-GA-G
• MyVariant Identifiers: chr19:g.40903086del (hg19) ; chr19:g.40397179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397180del , CM000681.2:g.40397180del	GRCh38
NC_000019.9:g.40903087del , CM000681.1:g.40903087del	GRCh37
NC_000019.8:g.45594927del	NCBI36
NG_007979.1:g.21186del , LRG_265:g.21186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1173del MANE Select	ENSP00000326018.6:p.Arg392GlufsTer20
ENST00000673881.1:c.756del	ENSP00000501070.1:p.Arg253GlufsTer20
ENST00000674005.2:c.1458del	ENSP00000501261.1:p.Arg487GlufsTer20
ENST00000674773.1:c.756del	ENSP00000502579.1:p.Arg253GlufsTer20
ENST00000675517.1:c.1048del
ENST00000676076.1:c.1034del
ENST00000676260.1:c.1135del
ENST00000676316.1:c.1060del
ENST00000291825.11:c.*1378del	ENSP00000291825.6:n.*1378del
ENST00000324001.7:c.1173del	ENSP00000326018.6:p.Arg392GlufsTer20
NM_020956.2:c.*1378del , LRG_265t1:c.*1378del	NP_066007.1:n.*1378del
NM_181882.2:c.1173del , LRG_265t2:c.1173del	NP_870998.2:p.Arg392GlufsTer20
XM_011527171.1:c.1173del	XP_011525473.1:p.Arg392GlufsTer20
XM_011527171.2:c.1173del	XP_011525473.1:p.Arg392GlufsTer20
XM_017027046.1:c.1071del	XP_016882535.1:p.Arg358GlufsTer20
XM_017027047.1:c.1071del	XP_016882536.1:p.Arg358GlufsTer20
NM_181882.3:c.1173del MANE Select	NP_870998.2:p.Arg392GlufsTer20