Linked Data
dbSNP Id:
rs2031747978
gnomAD v2:
19-694939-GC-G
gnomAD v4:
19-694939-GC-G
MyVariant Identifiers:
chr19:g.694940del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694944del , CM000681.2:g.694944del | GRCh38 |
| NC_000019.9:g.694944del , CM000681.1:g.694944del | GRCh37 |
| NC_000019.8:g.645944del | NCBI36 |
| NG_051189.1:g.5592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.107del MANE Select | ENSP00000327386.6:p.Gly36AlafsTer4 | |
| ENST00000329267.8:c.107del | ENSP00000327386.6:p.Gly36AlafsTer4 | |
| ENST00000613411.4:c.110del | ENSP00000482358.1:p.Gly37AlafsTer4 | |
| NM_001308209.1:c.107del | NP_001295138.1:p.Gly36AlafsTer4 | |
| NM_214710.3:c.110del | NP_999875.1:p.Gly37AlafsTer4 | |
| NM_214710.4:c.110del | NP_999875.1:p.Gly37AlafsTer4 | |
| NM_001308209.2:c.107del MANE Select | NP_001295138.2:p.Gly36AlafsTer4 | |
| NM_214710.5:c.110del | NP_999875.2:p.Gly37AlafsTer4 |