Linked Data
dbSNP Id:
rs1476392163
gnomAD v2:
5-40965040-TA-T
gnomAD v3:
5-40964938-TA-T
gnomAD v4:
5-40964938-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964941del , CM000667.2:g.40964941del | GRCh38 |
| NC_000005.9:g.40965043del , CM000667.1:g.40965043del | GRCh37 |
| NC_000005.8:g.41000800del | NCBI36 |
| NG_011692.1:g.60445del , LRG_30:g.60445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.674+68del | ||
| ENST00000696333.1:c.1882+68del | ENSP00000512566.1:n.1882+68del | |
| ENST00000696441.1:c.1882+68del | ENSP00000512631.1:n.1882+68del | |
| ENST00000706664.1:n.1996+68del | ||
| ENST00000706666.1:n.1958+68del | ||
| ENST00000706667.1:n.2772+68del | ||
| ENST00000706668.1:n.2610+68del | ||
| ENST00000313164.10:c.1882+68del MANE Select | ENSP00000322061.9:n.1882+68del | |
| ENST00000313164.9:c.1882+68del | ENSP00000322061.9:n.1882+68del | |
| ENST00000486779.1:n.395+68del | ||
| NM_000587.2:c.1882+68del , LRG_30t1:c.1882+68del | NP_000578.2:n.1882+68del | |
| XM_011514122.1:c.1882+68del | XP_011512424.1:n.1882+68del | |
| NM_000587.3:c.1882+68del | NP_000578.2:n.1882+68del | |
| NM_000587.4:c.1882+68del MANE Select | NP_000578.2:n.1882+68del |