Linked Data
dbSNP Id:
rs755863384
ExAC:
1:116275579 TTCAAAAG / T
gnomAD v2:
1-116275579-TTCAAAAG-T
gnomAD v4:
1-115732958-TTCAAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732959_115732965del , CM000663.2:g.115732959_115732965del | GRCh38 |
| NC_000001.10:g.116275580_116275586del , CM000663.1:g.116275580_116275586del | GRCh37 |
| NC_000001.9:g.116077103_116077109del | NCBI36 |
| NG_008802.1:g.40841_40847del , LRG_404:g.40841_40847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.266_272del | ENSP00000518226.1:p.Ala89GlufsTer27 | |
| ENST00000261448.6:c.542_548del MANE Select | ENSP00000261448.5:p.Ala181GlufsTer27 | |
| ENST00000261448.5:c.542_548del | ENSP00000261448.5:p.Ala181GlufsTer27 | |
| NM_001232.3:c.542_548del , LRG_404t1:c.542_548del | NP_001223.2:p.Ala181GlufsTer27 | |
| NM_001232.4:c.542_548del MANE Select | NP_001223.2:p.Ala181GlufsTer27 |