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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:
CA2670673948
Gene: KDR
HGNC
NCBI
Linked Data
dbSNP Id:
rs2110039223
gnomAD v4:
4-55125213-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55125214del , CM000666.2:g.55125214del
GRCh38
NC_000004.11:g.55991381del , CM000666.1:g.55991381del
GRCh37
NC_000004.10:g.55686138del
NCBI36
NG_012004.1:g.5382del
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.67+13del
MANE Select
ENSP00000263923.4:n.67+13del
ENST00000263923.4:c.67+13del
ENSP00000263923.4:n.67+13del
ENST00000512566.1:n.67+13del
NM_002253.2:c.67+13del
NP_002244.1:n.67+13del
NM_002253.3:c.67+13del
NP_002244.1:n.67+13del
NM_002253.4:c.67+13del
MANE Select
NP_002244.1:n.67+13del
Search 100 bp 5'
Search 100 bp 3'