Canonical Allele Identifier: CA658822671
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 557236
ClinVar RCV Id: RCV000673350 RCV001388459
dbSNP Id: rs1554182405
gnomAD v4: 5-177993002-A-AGC
MyVariant Identifiers: chr5:g.177420003_177420004insGC (hg19) chr5:g.177993003_177993004dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993005_177993006dup , CM000667.2:g.177993005_177993006dup GRCh38
NC_000005.9:g.177420006_177420007dup , CM000667.1:g.177420006_177420007dup GRCh37
NC_000005.8:g.177352612_177352613dup NCBI36
NG_015889.1:g.8239_8240dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.386_387dup MANE Select ENSP00000311290.2:p.Ser130AlafsTer?
NM_006261.4:c.386_387dup NP_006252.3:p.Ser130AlafsTer?
NM_006261.5:c.386_387dup MANE Select NP_006252.4:p.Ser130AlafsTer?
Search 100 bp 5'
Search 100 bp 3'