Canonical Allele Identifier: CA10620161

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353012
• ClinVar RCV Id: RCV000259460
• dbSNP Id: rs886060474
• gnomAD v4: 5-177992766-G-GC
• MyVariant Identifiers: chr5:g.177419768dupC (hg19) ; chr5:g.177419767_177419768insC (hg19) ; chr5:g.177992767dupC (hg38) ; chr5:g.177992766_177992767insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992767dup , CM000667.2:g.177992767dup	GRCh38
NC_000005.9:g.177419768dup , CM000667.1:g.177419768dup	GRCh37
NC_000005.8:g.177352374dup	NCBI36
NG_015889.1:g.8476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.623dup MANE Select	ENSP00000311290.2:p.Cys208TrpfsTer13
NM_006261.4:c.623dup	NP_006252.3:p.Cys208TrpfsTer13
NM_006261.5:c.623dup MANE Select	NP_006252.4:p.Cys208TrpfsTer13