Linked Data
gnomAD v4:
19-694940-CCCCCGATGATCTGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694945_694959del , CM000681.2:g.694945_694959del | GRCh38 |
| NC_000019.9:g.694945_694959del , CM000681.1:g.694945_694959del | GRCh37 |
| NC_000019.8:g.645945_645959del | NCBI36 |
| NG_051189.1:g.5577_5591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.92_106del MANE Select | ENSP00000327386.6:p.Ala31_Gly35del | |
| ENST00000329267.8:c.92_106del | ENSP00000327386.6:p.Ala31_Gly35del | |
| ENST00000613411.4:c.95_109del | ENSP00000482358.1:p.Ala32_Gly36del | |
| NM_001308209.1:c.92_106del | NP_001295138.1:p.Ala31_Gly35del | |
| NM_214710.3:c.95_109del | NP_999875.1:p.Ala32_Gly36del | |
| NM_214710.4:c.95_109del | NP_999875.1:p.Ala32_Gly36del | |
| NM_001308209.2:c.92_106del MANE Select | NP_001295138.2:p.Ala31_Gly35del | |
| NM_214710.5:c.95_109del | NP_999875.2:p.Ala32_Gly36del |