Linked Data
dbSNP Id:
rs78198409
gnomAD v3:
8-86739620-G-GTTTT
gnomAD v4:
8-86739620-G-GTTTT
MyVariant Identifiers:
chr8:g.87751851_87751852insTTTT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739635_86739638dup , CM000670.2:g.86739635_86739638dup | GRCh38 |
| NC_000008.10:g.87751863_87751866dup , CM000670.1:g.87751863_87751866dup | GRCh37 |
| NC_000008.9:g.87820979_87820982dup | NCBI36 |
| NG_016980.1:g.9052_9055dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+31_211+34dup MANE Select | ENSP00000316605.5:n.211+31_211+34dup | |
| ENST00000681746.1:c.211+31_211+34dup | ENSP00000505959.1:n.211+31_211+34dup | |
| ENST00000320005.5:c.211+31_211+34dup | ENSP00000316605.5:n.211+31_211+34dup | |
| ENST00000519777.1:n.193+31_193+34dup | ||
| NM_019098.4:c.211+31_211+34dup | NP_061971.3:n.211+31_211+34dup | |
| NM_019098.5:c.211+31_211+34dup MANE Select | NP_061971.3:n.211+31_211+34dup |