Linked Data
gnomAD v4:
10-94942213-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942214del , CM000672.2:g.94942214del | GRCh38 |
| NC_000010.10:g.96701971del , CM000672.1:g.96701971del | GRCh37 |
| NC_000010.9:g.96691961del | NCBI36 |
| NG_008385.1:g.8557del | |
| NG_008385.2:g.9057del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.354del MANE Select | ENSP00000260682.6:p.Lys119AsnfsTer11 | |
| ENST00000643112.1:c.354del | ENSP00000496202.1:p.Lys119AsnfsTer11 | |
| ENST00000645207.1:n.507del | ||
| ENST00000260682.6:c.354del | ENSP00000260682.6:p.Lys119AsnfsTer11 | |
| ENST00000461906.1:n.379del | ||
| ENST00000473496.1:n.125del | ||
| NM_000771.3:c.354del | NP_000762.2:p.Lys119AsnfsTer11 | |
| NM_000771.4:c.354del MANE Select | NP_000762.2:p.Lys119AsnfsTer11 |