Canonical Allele Identifier: CA214191
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8098
ClinVar RCV Id: RCV000008566 RCV000030379 RCV000517269 RCV002254517
dbSNP Id: rs193922688
ExAC: 5:177421146 ACT / A
gnomAD v2: 5-177421146-ACT-A
gnomAD v3: 5-177994145-ACT-A
gnomAD v4: 5-177994145-ACT-A
MyVariant Identifiers: chr5:g.177421147_177421148del (hg19) chr5:g.177994147_177994148del (hg38) chr5:g.177994146_177994147del (hg38)
PubMed: PMID:6046325 PMID:9462743 PMID:9745452 PMID:10084575 PMID:10323394 PMID:10634415 PMID:11022176 PMID:11081182 PMID:11549674 PMID:12414875 PMID:15126542 PMID:15472175 PMID:16703408 PMID:16735499 PMID:16984240 PMID:17162714 PMID:17526936 PMID:18157385 PMID:25581745 PMID:26059845 PMID:26111865
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177994151_177994152del , CM000667.2:g.177994151_177994152del GRCh38
NC_000005.9:g.177421152_177421153del , CM000667.1:g.177421152_177421153del GRCh37
NC_000005.8:g.177353758_177353759del NCBI36
NG_015889.1:g.7096_7097del

Transcript Alleles

HGVS Amino-acid change
ENST00000308304.2:c.301_302del MANE Select ENSP00000311290.2:p.Leu102CysfsTer8
NM_006261.4:c.301_302del NP_006252.3:p.Leu102CysfsTer8
NM_006261.5:c.301_302del MANE Select NP_006252.4:p.Leu102CysfsTer8
Search 100 bp 5'
Search 100 bp 3'