Linked Data
ClinVar Variation Id:
92683
dbSNP Id:
rs398123277
gnomAD v2:
6-49408020-CAAG-C
gnomAD v4:
6-49440307-CAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49440312_49440314del , CM000668.2:g.49440312_49440314del | GRCh38 |
| NC_000006.11:g.49408025_49408027del , CM000668.1:g.49408025_49408027del | GRCh37 |
| NC_000006.10:g.49515984_49515986del | NCBI36 |
| NG_007100.1:g.27830_27832del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.1852_1854del MANE Select | ENSP00000274813.3:p.Leu618del | |
| ENST00000274813.3:c.1852_1854del | ENSP00000274813.3:p.Leu618del | |
| NM_000255.3:c.1852_1854del | NP_000246.2:p.Leu618del | |
| XM_005249143.2:c.1852_1854del | XP_005249200.1:p.Leu618del | |
| XM_005249143.3:c.1852_1854del | XP_005249200.1:p.Leu618del | |
| NM_000255.4:c.1852_1854del MANE Select | NP_000246.2:p.Leu618del |