Canonical Allele Identifier: CA340730

Gene: PROP1

Linked Data

• ClinVar Variation Id: 8102
• ClinVar RCV Id: RCV000008570 ; RCV001053115 ; RCV002227017
• dbSNP Id: rs587776683
• ExAC: 5:177421298 CT / C
• gnomAD v2: 5-177421298-CT-C
• gnomAD v3: 5-177994297-CT-C
• gnomAD v4: 5-177994297-CT-C
• MyVariant Identifiers: chr5:g.177421299del (hg19) ; chr5:g.177994298del (hg38)
• PubMed: PMID:11549674 ; PMID:15126542 ; PMID:15472232 ; PMID:17526936 ; PMID:22024773

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994298del , CM000667.2:g.177994298del	GRCh38
NC_000005.9:g.177421299del , CM000667.1:g.177421299del	GRCh37
NC_000005.8:g.177353905del	NCBI36
NG_015889.1:g.6945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.150del MANE Select	ENSP00000311290.2:p.Arg53AspfsTer?
NM_006261.4:c.150del	NP_006252.3:p.Arg53AspfsTer?
NM_006261.5:c.150del MANE Select	NP_006252.4:p.Arg53AspfsTer?