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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:
CA2672891892
Gene: CYP4V2
HGNC
NCBI
Linked Data
gnomAD v4:
4-186191713-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186191714del , CM000666.2:g.186191714del
GRCh38
NC_000004.11:g.187112868del , CM000666.1:g.187112868del
GRCh37
NC_000004.10:g.187349862del
NCBI36
NG_007965.1:g.5195del
Transcript Alleles
HGVS
Amino-acid change
ENST00000378802.5:c.-110del
MANE Select
ENSP00000368079.4:n.-110del
ENST00000378802.4:c.-110del
ENSP00000368079.4:n.-110del
NM_207352.3:c.-110del
NP_997235.3:n.-110del
XM_005262935.2:c.-110del
XP_005262992.1:n.-110del
XM_017008037.1:c.-420del
XP_016863526.1:n.-420del
NM_207352.4:c.-110del
MANE Select
NP_997235.3:n.-110del
Search 100 bp 5'
Search 100 bp 3'