Canonical Allele Identifier: CA16041002

Gene: PROP1

Linked Data

• ClinVar Variation Id: 371125
• ClinVar RCV Id: RCV000409831
• dbSNP Id: rs1057517027
• MyVariant Identifiers: chr5:g.177420000_177420001del (hg19) ; chr5:g.177992999_177993000del (hg38)

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
ENST00000308304.2:c.390_391del MANE Select	ENSP00000311290.2:p.Leu131AlafsTer?
NM_006261.4:c.390_391del	NP_006252.3:p.Leu131AlafsTer?
NM_006261.5:c.390_391del MANE Select	NP_006252.4:p.Leu131AlafsTer?