Linked Data
gnomAD v4:
12-65170171-AGCCCCACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170173_65170181del , CM000674.2:g.65170173_65170181del | GRCh38 |
| NC_000012.11:g.65563953_65563961del , CM000674.1:g.65563953_65563961del | GRCh37 |
| NC_000012.10:g.63850220_63850228del | NCBI36 |
| NG_016210.1:g.5603_5611del | |
| NG_016210.2:g.5603_5611del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.577_585del MANE Select | ENSP00000308369.2:p.Pro193_Ser195del | |
| ENST00000308330.2:c.577_585del | ENSP00000308369.2:p.Pro193_Ser195del | |
| ENST00000541171.1:n.591_599del | ||
| NM_001167614.1:c.577_585del | NP_001161086.1:p.Pro193_Ser195del | |
| NM_014319.4:c.577_585del | NP_055134.2:p.Pro193_Ser195del | |
| NM_014319.5:c.577_585del MANE Select | NP_055134.2:p.Pro193_Ser195del | |
| NM_001167614.2:c.577_585del | NP_001161086.1:p.Pro193_Ser195del |