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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:
CA563603905
Gene: ANXA6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1483260943
gnomAD v2:
5-150480420-A-AC
gnomAD v4:
5-151100859-A-AC
MyVariant Identifiers:
chr5:g.150480420_150480421insC (hg19)
chr5:g.151100859_151100860insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.151100860dup , CM000667.2:g.151100860dup
GRCh38
NC_000005.9:g.150480421dup , CM000667.1:g.150480421dup
GRCh37
NC_000005.8:g.150460614dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000354546.10:c.*588dup
MANE Select
ENSP00000346550.5:n.*588dup
ENST00000522664.5:c.303dup
NM_001155.4:c.*588dup
NP_001146.2:n.*588dup
NM_001193544.1:c.*588dup
NP_001180473.1:n.*588dup
NM_001363114.1:c.*588dup
NP_001350043.1:n.*588dup
NM_001155.5:c.*588dup
MANE Select
NP_001146.2:n.*588dup
NM_001193544.2:c.*588dup
NP_001180473.1:n.*588dup
NM_001363114.2:c.*588dup
NP_001350043.1:n.*588dup
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