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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:
CA808119911
Gene: PROP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1432149141
gnomAD v3:
5-177995842-G-GT
gnomAD v4:
5-177995842-G-GT
MyVariant Identifiers:
chr5:g.177422843_177422844insT (hg19)
chr5:g.177995842_177995843insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177995843dup , CM000667.2:g.177995843dup
GRCh38
NC_000005.9:g.177422844dup , CM000667.1:g.177422844dup
GRCh37
NC_000005.8:g.177355450dup
NCBI36
NG_015889.1:g.5400dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000308304.2:c.91dup
MANE Select
ENSP00000311290.2:p.Thr31AsnfsTer?
NM_006261.4:c.91dup
NP_006252.3:p.Thr31AsnfsTer?
NM_006261.5:c.91dup
MANE Select
NP_006252.4:p.Thr31AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'