Linked Data
dbSNP Id:
rs1335776893
gnomAD v2:
16-89986236-GTGCCTCGTGGTC-G
gnomAD v3:
16-89919828-GTGCCTCGTGGTC-G
gnomAD v4:
16-89919828-GTGCCTCGTGGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919830_89919841del , CM000678.2:g.89919830_89919841del | GRCh38 |
| NC_000016.9:g.89986238_89986249del , CM000678.1:g.89986238_89986249del | GRCh37 |
| NC_000016.8:g.88513739_88513750del | NCBI36 |
| NG_012026.1:g.6952_6963del | |
| NG_027810.1:g.2822_2833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.572_583del MANE Select | ENSP00000451605.1:p.Cys191_Val194del | |
| ENST00000639847.1:c.572_583del | ENSP00000492011.1:p.Cys191_Val194del | |
| ENST00000555147.1:c.572_583del | ENSP00000451605.1:p.Cys191_Val194del | |
| ENST00000555427.1:c.572_583del | ENSP00000451760.1:p.Cys191_Val194del | |
| ENST00000556922.1:c.572_583del | ENSP00000451560.1:p.Cys191_Val194del | |
| NM_002386.3:c.572_583del | NP_002377.4:p.Cys191_Val194del | |
| NM_002386.4:c.572_583del MANE Select | NP_002377.4:p.Cys191_Val194del |