Linked Data
gnomAD v4:
12-65170110-GCGCCGCCGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170111_65170120del , CM000674.2:g.65170111_65170120del | GRCh38 |
| NC_000012.11:g.65563891_65563900del , CM000674.1:g.65563891_65563900del | GRCh37 |
| NC_000012.10:g.63850158_63850167del | NCBI36 |
| NG_016210.1:g.5541_5550del | |
| NG_016210.2:g.5541_5550del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.515_524del MANE Select | ENSP00000308369.2:p.Ala172GlyfsTer8 | |
| ENST00000308330.2:c.515_524del | ENSP00000308369.2:p.Ala172GlyfsTer8 | |
| ENST00000541171.1:n.529_538del | ||
| NM_001167614.1:c.515_524del | NP_001161086.1:p.Ala172GlyfsTer8 | |
| NM_014319.4:c.515_524del | NP_055134.2:p.Ala172GlyfsTer8 | |
| NM_014319.5:c.515_524del MANE Select | NP_055134.2:p.Ala172GlyfsTer8 | |
| NM_001167614.2:c.515_524del | NP_001161086.1:p.Ala172GlyfsTer8 |