Canonical Allele Identifier: CA3587501

Gene: PROP1

Linked Data

• ClinVar Variation Id: 371561
• ClinVar RCV Id: RCV000409202 ; RCV003105888
• dbSNP Id: rs762529663
• ExAC: 5:177419833 AG / A
• gnomAD v2: 5-177419833-AG-A
• gnomAD v3: 5-177992832-AG-A
• gnomAD v4: 5-177992832-AG-A
• MyVariant Identifiers: chr5:g.177419834del (hg19) ; chr5:g.177992833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992833del , CM000667.2:g.177992833del	GRCh38
NC_000005.9:g.177419834del , CM000667.1:g.177419834del	GRCh37
NC_000005.8:g.177352440del	NCBI36
NG_015889.1:g.8410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.557del MANE Select	ENSP00000311290.2:p.Ala186ValfsTer?
NM_006261.4:c.557del	NP_006252.3:p.Ala186ValfsTer?
NM_006261.5:c.557del MANE Select	NP_006252.4:p.Ala186ValfsTer?