Linked Data
dbSNP Id:
rs397517197
ExAC:
4:6303907 GGAC / G
gnomAD v2:
4-6303907-GGAC-G
gnomAD v3:
4-6302180-GGAC-G
gnomAD v4:
4-6302180-GGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302185_6302187del , CM000666.2:g.6302185_6302187del | GRCh38 |
| NC_000004.11:g.6303912_6303914del , CM000666.1:g.6303912_6303914del | GRCh37 |
| NC_000004.10:g.6354813_6354815del | NCBI36 |
| NG_011700.1:g.37336_37338del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2426_2428del | ENSP00000507852.1:p.Asp809del | |
| ENST00000683395.1:c.2367_2369del | ||
| ENST00000684087.1:c.2390_2392del | ENSP00000506978.1:p.Asp797del | |
| ENST00000506362.2:c.2141_2143del | ENSP00000424103.2:p.Asp714del | |
| ENST00000673991.1:c.2426_2428del | ENSP00000501033.1:p.Asp809del | |
| ENST00000226760.5:c.2390_2392del MANE Select | ENSP00000226760.1:p.Asp797del | |
| ENST00000503569.5:c.2390_2392del | ENSP00000423337.1:p.Asp797del | |
| ENST00000507765.1:n.2575_2577del | ||
| NM_001145853.1:c.2390_2392del | NP_001139325.1:p.Asp797del | |
| NM_006005.3:c.2390_2392del MANE Select | NP_005996.2:p.Asp797del | |
| XM_017008586.1:c.2399_2401del | XP_016864075.1:p.Asp800del |