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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:
CA1458924076
Gene: KDR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55081957_55081958delinsCA , CM000666.2:g.55081957_55081958delinsCA
GRCh38
NC_000004.11:g.55948124_55948125delinsCA , CM000666.1:g.55948124_55948125delinsCA
GRCh37
NC_000004.10:g.55642881_55642882delinsCA
NCBI36
NG_012004.1:g.48638_48639delinsTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.3846_3847delinsTG
MANE Select
ENSP00000263923.4:p.Phe1282=
ENST00000647068.1:n.3859_3860delinsTG
ENST00000263923.4:c.3846_3847delinsTG
ENSP00000263923.4:p.Phe1282=
NM_002253.2:c.3846_3847delinsTG
NP_002244.1:p.Phe1282=
NM_002253.3:c.3846_3847delinsTG
NP_002244.1:p.Phe1282=
NM_002253.4:c.3846_3847delinsTG
MANE Select
NP_002244.1:p.Phe1282=
Search 100 bp 5'
Search 100 bp 3'