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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:
CA796397754
Gene: KDR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1200763976
gnomAD v3:
4-55112718-TG-T
gnomAD v4:
4-55112718-TG-T
MyVariant Identifiers:
chr4:g.55978886del (hg19)
chr4:g.55112719del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55112722del , CM000666.2:g.55112722del
GRCh38
NC_000004.11:g.55978889del , CM000666.1:g.55978889del
GRCh37
NC_000004.10:g.55673646del
NCBI36
NG_012004.1:g.17877del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000263923.5:c.976+585del
MANE Select
ENSP00000263923.4:n.976+585del
ENST00000647068.1:n.989+585del
ENST00000263923.4:c.976+585del
ENSP00000263923.4:n.976+585del
ENST00000512566.1:n.976+585del
NM_002253.2:c.976+585del
NP_002244.1:n.976+585del
NM_002253.3:c.976+585del
NP_002244.1:n.976+585del
NM_002253.4:c.976+585del
MANE Select
NP_002244.1:n.976+585del
Search 100 bp 5'
Search 100 bp 3'