Linked Data
dbSNP Id:
rs1195401628
gnomAD v2:
10-101590307-CCTTT-C
gnomAD v3:
10-99830550-CCTTT-C
gnomAD v4:
10-99830550-CCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830551_99830554del , CM000672.2:g.99830551_99830554del | GRCh38 |
| NC_000010.10:g.101590308_101590311del , CM000672.1:g.101590308_101590311del | GRCh37 |
| NC_000010.9:g.101580298_101580301del | NCBI36 |
| NG_011798.1:g.52846_52849del | |
| NG_011798.2:g.52954_52957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2747+118_2747+121del MANE Select | ENSP00000497274.1:n.2747+118_2747+121del | |
| ENST00000370449.8:c.2747+118_2747+121del | ENSP00000359478.4:n.2747+118_2747+121del | |
| NM_000392.4:c.2747+118_2747+121del | NP_000383.1:n.2747+118_2747+121del | |
| XM_006717630.2:c.2051+118_2051+121del | XP_006717693.1:n.2051+118_2051+121del | |
| XM_011539291.1:c.2747+118_2747+121del | XP_011537593.1:n.2747+118_2747+121del | |
| XR_945604.1:n.2936+118_2936+121del | ||
| XR_945605.1:n.2938+118_2938+121del | ||
| NM_000392.5:c.2747+118_2747+121del MANE Select | NP_000383.2:n.2747+118_2747+121del | |
| XM_006717630.3:c.2051+118_2051+121del | XP_006717693.1:n.2051+118_2051+121del | |
| XM_011539291.3:c.2747+118_2747+121del | XP_011537593.1:n.2747+118_2747+121del | |
| XR_945604.3:n.2990+118_2990+121del | ||
| XR_945605.3:n.2990+118_2990+121del |