Linked Data
dbSNP Id:
rs751471991
ExAC:
5:52942047 TCTTG / T
gnomAD v2:
5-52942047-TCTTG-T
gnomAD v4:
5-53646217-TCTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646218_53646221del , CM000667.2:g.53646218_53646221del | GRCh38 |
| NC_000005.9:g.52942048_52942051del , CM000667.1:g.52942048_52942051del | GRCh37 |
| NC_000005.8:g.52977805_52977808del | NCBI36 |
| NG_008200.1:g.90584_90587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.178-15_178-12del MANE Select | ENSP00000296684.5:n.178-15_178-12del | |
| ENST00000296684.9:c.178-15_178-12del | ENSP00000296684.5:n.178-15_178-12del | |
| ENST00000502423.5:c.*45-15_*45-12del | ENSP00000422177.1:n.*45-15_*45-12del | |
| ENST00000506765.1:c.166-15_166-12del | ENSP00000424570.1:n.166-15_166-12del | |
| ENST00000506974.5:c.350-15_350-12del | ENSP00000425967.1:n.350-15_350-12del | |
| ENST00000507026.5:c.*152-15_*152-12del | ENSP00000424993.1:n.*152-15_*152-12del | |
| ENST00000509443.1:n.24_27del | ||
| NM_002495.2:c.178-15_178-12del | NP_002486.1:n.178-15_178-12del | |
| XM_005248525.3:c.178-15_178-12del | XP_005248582.1:n.178-15_178-12del | |
| XM_011543415.1:c.4-15_4-12del | XP_011541717.1:n.4-15_4-12del | |
| NM_001318051.1:c.178-15_178-12del | NP_001304980.1:n.178-15_178-12del | |
| NM_002495.3:c.178-15_178-12del | NP_002486.1:n.178-15_178-12del | |
| NR_134473.1:n.380-15_380-12del | ||
| NR_134474.1:n.297-15_297-12del | ||
| NR_134475.1:n.332-15_332-12del | ||
| NM_002495.4:c.178-15_178-12del MANE Select | NP_002486.1:n.178-15_178-12del | |
| NM_001318051.2:c.178-15_178-12del | NP_001304980.1:n.178-15_178-12del | |
| NR_134473.2:n.374-15_374-12del | ||
| NR_134474.2:n.291-15_291-12del | ||
| NR_134475.2:n.326-15_326-12del |