Linked Data
dbSNP Id:
rs1424581925
gnomAD v2:
19-1401315-GCCAGCGCGTGCATATAGGGGGTCTC-G
gnomAD v3:
19-1401316-GCCAGCGCGTGCATATAGGGGGTCTC-G
gnomAD v4:
19-1401316-GCCAGCGCGTGCATATAGGGGGTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401324_1401348del , CM000681.2:g.1401324_1401348del | GRCh38 |
| NC_000019.9:g.1401323_1401347del , CM000681.1:g.1401323_1401347del | GRCh37 |
| NC_000019.8:g.1352323_1352347del | NCBI36 |
| NG_009785.1:g.5213_5237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.136_160del MANE Select | ENSP00000252288.1:p.Glu46ProfsTer? | |
| ENST00000447102.8:c.136_160del | ENSP00000403536.2:p.Glu46ProfsTer? | |
| ENST00000640762.1:c.112+24_112+48del | ENSP00000492031.1:n.112+24_112+48del | |
| ENST00000252288.6:c.136_160del | ENSP00000252288.1:p.Glu46ProfsTer? | |
| ENST00000447102.7:c.136_160del | ENSP00000403536.2:p.Glu46ProfsTer? | |
| NM_000156.5:c.136_160del | NP_000147.1:p.Glu46ProfsTer? | |
| NM_138924.2:c.136_160del | NP_620279.1:p.Glu46ProfsTer? | |
| NM_000156.6:c.136_160del MANE Select | NP_000147.1:p.Glu46ProfsTer? | |
| NM_138924.3:c.136_160del | NP_620279.1:p.Glu46ProfsTer? |