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:
CA853849255
Gene:
Linked Data
dbSNP Id:
rs1383256258
gnomAD v3:
8-60281511-T-TGCGCCTCG
gnomAD v4:
8-60281511-T-TGCGCCTCG
MyVariant Identifiers:
chr8:g.61194070_61194071insGCGCCTCG (hg19)
chr8:g.60281511_60281512insGCGCCTCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60281513_60281520dup , CM000670.2:g.60281513_60281520dup | GRCh38 |
| NC_000008.10:g.61194072_61194079dup , CM000670.1:g.61194072_61194079dup | GRCh37 |
| NC_000008.9:g.61356626_61356633dup | NCBI36 |
| NG_023193.1:g.4877_4884dup | |
| NG_023193.2:g.4877_4884dup |