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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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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
JSON-LD
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'