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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:
CA2657579864
Gene: CHKB-CPT1B
HGNC
NCBI
Linked Data
gnomAD v4:
22-50578728-T-TGTAGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50578729_50578730insTAGAG , CM000684.2:g.50578729_50578730insTAGAG
GRCh38
NC_000022.10:g.51017158_51017159insTAGAG , CM000684.1:g.51017158_51017159insTAGAG
GRCh37
NC_000022.9:g.49364024_49364025insTAGAG
NCBI36
NG_012643.1:g.4939_4940insTCTAC
NG_029213.1:g.9271_9272insTCTAC , LRG_855:g.9271_9272insTCTAC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000452668.1:n.320-70_320-69insTCTAC
ENST00000453634.5:c.329-70_329-69insTCTAC
ENSP00000457031.1:n.329-70_329-69insTCTAC
ENST00000492556.5:n.2189+307_2189+308insTCTAC
NR_027928.2:n.1551+307_1551+308insTCTAC
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