Linked Data
dbSNP Id:
rs751911082
ExAC:
7:152346250 ATTTC / A
gnomAD v2:
7-152346250-ATTTC-A
gnomAD v4:
7-152649165-ATTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649168_152649171del , CM000669.2:g.152649168_152649171del | GRCh38 |
| NC_000007.13:g.152346253_152346256del , CM000669.1:g.152346253_152346256del | GRCh37 |
| NC_000007.12:g.151977186_151977189del | NCBI36 |
| NG_027988.1:g.31997_32000del | |
| NG_027988.2:g.31997_32000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.148_151del | ENSP00000513758.1:p.Glu50Ter | |
| ENST00000359321.2:c.316_319del MANE Select | ENSP00000352271.1:p.Glu106Ter | |
| ENST00000359321.1:c.316_319del | ENSP00000352271.1:p.Glu106Ter | |
| ENST00000495707.1:n.338_341del | ||
| NM_005431.1:c.316_319del | NP_005422.1:p.Glu106Ter | |
| NM_005431.2:c.316_319del MANE Select | NP_005422.1:p.Glu106Ter |