Linked Data
dbSNP Id:
rs1285694126
gnomAD v2:
9-104183697-C-CTTTTTTT
MyVariant Identifiers:
chr9:g.104183697_104183698insTTTTTTT (hg19)
chr9:g.101421415_101421416insTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421416_101421417insTTTTTTT , CM000671.2:g.101421416_101421417insTTTTTTT | GRCh38 |
| NC_000009.11:g.104183698_104183699insTTTTTTT , CM000671.1:g.104183698_104183699insTTTTTTT | GRCh37 |
| NC_000009.10:g.103223519_103223520insTTTTTTT | NCBI36 |
| NG_012387.1:g.19365_19366insAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*393_*394insAAAAAAA MANE Select | ENSP00000497767.1:n.*393_*394insAAAAAAA | |
| ENST00000374855.8:c.*393_*394insAAAAAAA | ENSP00000363988.4:n.*393_*394insAAAAAAA | |
| NM_000035.3:c.*393_*394insAAAAAAA | NP_000026.2:n.*393_*394insAAAAAAA | |
| NM_000035.4:c.*393_*394insAAAAAAA MANE Select | NP_000026.2:n.*393_*394insAAAAAAA |