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:
CA803406398
Gene:
Linked Data
dbSNP Id:
rs959363779
gnomAD v3:
5-126002800-G-GAA
gnomAD v4:
5-126002800-G-GAA
MyVariant Identifiers:
chr5:g.125338493_125338494insAA (hg19)
chr5:g.126002800_126002801insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126002806_126002807dup , CM000667.2:g.126002806_126002807dup | GRCh38 |
| NC_000005.9:g.125338499_125338500dup , CM000667.1:g.125338499_125338500dup | GRCh37 |
| NC_000005.8:g.125366398_125366399dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948737.1:n.565+3538_565+3539dup | ||
| XR_948738.1:n.497+5738_497+5739dup |