×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2241070002
Gene: ZNF469
HGNC
NCBI
Linked Data
dbSNP Id:
rs1905762016
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.88427464del , CM000678.2:g.88427464del
GRCh38
NC_000016.9:g.88493872del , CM000678.1:g.88493872del
GRCh37
NC_000016.8:g.87021373del
NCBI36
NG_012236.2:g.4994del
Transcript Alleles
HGVS
Amino-acid change
ENST00000565624.3:c.-7del
MANE Select
ENSP00000456500.2:n.-7del
XM_011523386.1:c.-7del
XP_011521688.1:n.-7del
XM_011523387.1:c.-7del
XP_011521689.1:n.-7del
XM_011523388.1:c.-7del
XP_011521690.1:n.-7del
XM_017023784.1:c.-7del
XP_016879273.1:n.-7del
XM_017023785.1:c.-7del
XP_016879274.1:n.-7del
XR_002957934.1:n.250+2500del
NM_001367624.2:c.-7del
MANE Select
NP_001354553.1:n.-7del
Search 100 bp 5'
Search 100 bp 3'