Canonical Allele Identifier: CA16041005

Gene: PROP1

Linked Data

• ClinVar Variation Id: 371631
• ClinVar RCV Id: RCV000410666
• dbSNP Id: rs1057517424
• MyVariant Identifiers: chr5:g.177421252dupG (hg19) ; chr5:g.177421251_177421252insG (hg19) ; chr5:g.177994251dupG (hg38) ; chr5:g.177994250_177994251insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994253dup , CM000667.2:g.177994253dup	GRCh38
NC_000005.9:g.177421254dup , CM000667.1:g.177421254dup	GRCh37
NC_000005.8:g.177353860dup	NCBI36
NG_015889.1:g.6992dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.197dup MANE Select	ENSP00000311290.2:p.His67AlafsTer?
NM_006261.4:c.197dup	NP_006252.3:p.His67AlafsTer?
NM_006261.5:c.197dup MANE Select	NP_006252.4:p.His67AlafsTer?