Canonical Allele Identifier: CA16041002
Gene: PROP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371125
ClinVar RCV Id: RCV000409831
dbSNP Id: rs1057517027

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993000_177993001del , CM000667.2:g.177993000_177993001del GRCh38
NC_000005.9:g.177420001_177420002del , CM000667.1:g.177420001_177420002del GRCh37
NC_000005.8:g.177352607_177352608del NCBI36
NG_015889.1:g.8243_8244del

Transcript Alleles

HGVS Amino-acid change
NM_006261.4:c.390_391del VV NP_006252.3:p.Leu131AlafsTer?
ENST00000308304.2:c.390_391del ENSP00000311290.2:p.Leu131AlafsTer?