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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:
CA805671627
Gene: ANXA6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1409066280
gnomAD v3:
5-151100978-TG-T
gnomAD v4:
5-151100978-TG-T
MyVariant Identifiers:
chr5:g.150480540del (hg19)
chr5:g.151100979del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.151100980del , CM000667.2:g.151100980del
GRCh38
NC_000005.9:g.150480541del , CM000667.1:g.150480541del
GRCh37
NC_000005.8:g.150460734del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000354546.10:c.*469del
MANE Select
ENSP00000346550.5:n.*469del
ENST00000522664.5:c.201-17del
NM_001155.4:c.*469del
NP_001146.2:n.*469del
NM_001193544.1:c.*469del
NP_001180473.1:n.*469del
NM_001363114.1:c.*469del
NP_001350043.1:n.*469del
NM_001155.5:c.*469del
MANE Select
NP_001146.2:n.*469del
NM_001193544.2:c.*469del
NP_001180473.1:n.*469del
NM_001363114.2:c.*469del
NP_001350043.1:n.*469del
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