Linked Data
dbSNP Id:
rs993677797
gnomAD v2:
17-42449750-ATCT-A
gnomAD v3:
17-44372382-ATCT-A
gnomAD v4:
17-44372382-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372388_44372390del , CM000679.2:g.44372388_44372390del | GRCh38 |
| NC_000017.10:g.42449756_42449758del , CM000679.1:g.42449756_42449758del | GRCh37 |
| NC_000017.9:g.39805282_39805284del | NCBI36 |
| NG_008331.1:g.22121_22123del , LRG_479:g.22121_22123del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3099_3101del MANE Select | ENSP00000262407.5:p.Glu1033del | |
| ENST00000648408.1:c.2413_2415del | ||
| ENST00000262407.5:c.3099_3101del | ENSP00000262407.5:p.Glu1033del | |
| ENST00000587295.5:c.292_294del | ||
| ENST00000588098.1:c.76_78del | ||
| NM_000419.3:c.3099_3101del , LRG_479t1:c.3099_3101del | NP_000410.2:p.Glu1033del | |
| XM_011524749.1:c.2997_2999del | XP_011523051.1:p.Glu999del | |
| XM_011524750.1:c.2982_2984del | XP_011523052.1:p.Glu994del | |
| NM_000419.4:c.3099_3101del | NP_000410.2:p.Glu1033del | |
| NM_000419.5:c.3099_3101del MANE Select | NP_000410.2:p.Glu1033del |