Linked Data
dbSNP Id:
rs2070095541
gnomAD v3:
8-19967021-TTAGCTGTAAA-T
gnomAD v4:
8-19967021-TTAGCTGTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967024_19967033del , CM000670.2:g.19967024_19967033del | GRCh38 |
| NC_000008.10:g.19824535_19824544del , CM000670.1:g.19824535_19824544del | GRCh37 |
| NC_000008.9:g.19868815_19868824del | NCBI36 |
| NG_008855.1:g.32954_32963del | |
| NG_008855.2:g.70308_70317del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1714_*1723del MANE Select | ENSP00000497642.1:n.*1714_*1723del | |
| ENST00000650478.1:c.2082_2091del | ENSP00000497560.1:n.2082_2091del | |
| ENST00000311322.8:c.*1714_*1723del | ENSP00000309757.6:n.*1714_*1723del | |
| NM_000237.2:c.*1714_*1723del | NP_000228.1:n.*1714_*1723del | |
| NM_000237.3:c.*1714_*1723del MANE Select | NP_000228.1:n.*1714_*1723del |