Linked Data
dbSNP Id:
rs1248901651
gnomAD v2:
10-96701529-TA-T
gnomAD v3:
10-94941772-TA-T
gnomAD v4:
10-94941772-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941773del , CM000672.2:g.94941773del | GRCh38 |
| NC_000010.10:g.96701530del , CM000672.1:g.96701530del | GRCh37 |
| NC_000010.9:g.96691520del | NCBI36 |
| NG_008385.1:g.8116del | |
| NG_008385.2:g.8616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-85del MANE Select | ENSP00000260682.6:n.169-85del | |
| ENST00000643112.1:c.169-85del | ENSP00000496202.1:n.169-85del | |
| ENST00000645207.1:n.237del | ||
| ENST00000260682.6:c.169-85del | ENSP00000260682.6:n.169-85del | |
| ENST00000461906.1:n.194-85del | ||
| NM_000771.3:c.169-85del | NP_000762.2:n.169-85del | |
| NM_000771.4:c.169-85del MANE Select | NP_000762.2:n.169-85del |