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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:
CA649244420
Gene: KDR
HGNC
NCBI
Linked Data
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55125294_55125295insA , CM000666.2:g.55125294_55125295insA
GRCh38
NC_000004.11:g.55991461_55991462insA , CM000666.1:g.55991461_55991462insA
GRCh37
NC_000004.10:g.55686218_55686219insA
NCBI36
NG_012004.1:g.5301_5302insT
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.-2_-1insT
MANE Select
ENSP00000263923.4:n.-2_-1insT
ENST00000263923.4:c.-2_-1insT
ENSP00000263923.4:n.-2_-1insT
NM_002253.2:c.-2_-1insT
NP_002244.1:n.-2_-1insT
NM_002253.3:c.-2_-1insT
NP_002244.1:n.-2_-1insT
NM_002253.4:c.-2_-1insT
MANE Select
NP_002244.1:n.-2_-1insT
Search 100 bp 5'
Search 100 bp 3'