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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA813048537
Gene:
Linked Data
dbSNP Id:
rs1252621636
gnomAD v3:
5-63965453-G-GGTTGGA
gnomAD v4:
5-63965453-G-GGTTGGA
MyVariant Identifiers:
chr5:g.63261280_63261281insGTTGGA (hg19)
chr5:g.63965453_63965454insGTTGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63965457_63965462dup , CM000667.2:g.63965457_63965462dup | GRCh38 |
| NC_000005.9:g.63261284_63261289dup , CM000667.1:g.63261284_63261289dup | GRCh37 |
| NC_000005.8:g.63297040_63297045dup | NCBI36 |
| NG_032816.1:g.1834_1839dup |