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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:
CA233311806
Gene: PDE6H
HGNC
NCBI
Linked Data
dbSNP Id:
rs760590114
gnomAD v2:
12-15130837-TA-T
gnomAD v3:
12-14977903-TA-T
gnomAD v4:
12-14977903-TA-T
MyVariant Identifiers:
chr12:g.15130838del (hg19)
chr12:g.14977904del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.14977906del , CM000674.2:g.14977906del
GRCh38
NC_000012.11:g.15130840del , CM000674.1:g.15130840del
GRCh37
NC_000012.10:g.15022107del
NCBI36
NG_016859.1:g.9885del
Transcript Alleles
HGVS
Amino-acid change
ENST00000266395.3:c.-41-66del
MANE Select
ENSP00000266395.2:n.-41-66del
ENST00000266395.2:c.-41-66del
ENSP00000266395.2:n.-41-66del
NM_006205.2:c.-41-66del
NP_006196.1:n.-41-66del
XR_931376.1:n.175+11583del
XM_017019431.2:c.-107del
XP_016874920.1:n.-107del
XR_931376.2:n.389+11583del
NM_006205.3:c.-41-66del
MANE Select
NP_006196.1:n.-41-66del
Search 100 bp 5'
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