Linked Data
dbSNP Id:
rs80338947
ExAC:
13:20763360 TCTC / T
gnomAD v2:
13-20763360-TCTC-T
gnomAD v3:
13-20189221-TCTC-T
gnomAD v4:
13-20189221-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189225_20189227del , CM000675.2:g.20189225_20189227del | GRCh38 |
| NC_000013.10:g.20763364_20763366del , CM000675.1:g.20763364_20763366del | GRCh37 |
| NC_000013.9:g.19661364_19661366del | NCBI36 |
| NG_008358.1:g.8752_8754del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.358_360del | ENSP00000372295.1:p.Glu120del | |
| ENST00000382848.5:c.358_360del MANE Select | ENSP00000372299.4:p.Glu120del | |
| ENST00000382844.1:c.358_360del | ENSP00000372295.1:p.Glu120del | |
| ENST00000382848.4:c.358_360del | ENSP00000372299.4:p.Glu120del | |
| NM_004004.5:c.358_360del | NP_003995.2:p.Glu120del | |
| XM_011535049.1:c.358_360del | XP_011533351.1:p.Glu120del | |
| XM_011535049.2:c.358_360del | XP_011533351.1:p.Glu120del | |
| NM_004004.6:c.358_360del MANE Select | NP_003995.2:p.Glu120del |