Linked Data
dbSNP Id:
rs201741491
gnomAD v2:
15-48737303-TTA-T
gnomAD v3:
15-48445106-TTA-T
gnomAD v4:
15-48445106-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445119_48445120del , CM000677.2:g.48445119_48445120del | GRCh38 |
| NC_000015.9:g.48737316_48737317del , CM000677.1:g.48737316_48737317del | GRCh37 |
| NC_000015.8:g.46524608_46524609del | NCBI36 |
| NG_008805.2:g.205681_205682del , LRG_778:g.205681_205682del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+268_5917+269del | ENSP00000453958.2:n.5917+268_5917+269del | |
| ENST00000674301.2:c.5917+268_5917+269del | ENSP00000501333.2:n.5917+268_5917+269del | |
| ENST00000684448.1:n.4591+268_4591+269del | ||
| ENST00000316623.10:c.5917+268_5917+269del MANE Select | ENSP00000325527.5:n.5917+268_5917+269del | |
| ENST00000674301.1:c.916+268_916+269del | ENSP00000501333.1:n.916+268_916+269del | |
| ENST00000316623.9:c.5917+268_5917+269del | ENSP00000325527.5:n.5917+268_5917+269del | |
| ENST00000537463.6:c.*1680+268_*1680+269del | ENSP00000440294.2:n.*1680+268_*1680+269del | |
| ENST00000559133.5:c.1224+268_1224+269del | ||
| ENST00000560820.1:n.37+268_37+269del | ||
| NM_000138.4:c.5917+268_5917+269del , LRG_778t1:c.5917+268_5917+269del | NP_000129.3:n.5917+268_5917+269del | |
| NM_000138.5:c.5917+268_5917+269del MANE Select | NP_000129.3:n.5917+268_5917+269del |