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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:
CA1435013592
Gene: MSX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs33929633
gnomAD v4:
4-4862677-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.4862685_4862686del , CM000666.2:g.4862685_4862686del
GRCh38
NC_000004.11:g.4864412_4864413del , CM000666.1:g.4864412_4864413del
GRCh37
NC_000004.10:g.4915313_4915314del
NCBI36
NG_008121.1:g.8021_8022del
Transcript Alleles
HGVS
Amino-acid change
ENST00000382723.5:c.470-16_470-15del
MANE Select
ENSP00000372170.4:n.470-16_470-15del
ENST00000382723.4:c.470-16_470-15del
ENSP00000372170.4:n.470-16_470-15del
ENST00000468421.1:n.182-16_182-15del
NM_002448.3:c.470-16_470-15del
MANE Select
NP_002439.2:n.470-16_470-15del
Search 100 bp 5'
Search 100 bp 3'