Linked Data
gnomAD v4:
6-143485178-CTAAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485182_143485186del , CM000668.2:g.143485182_143485186del | GRCh38 |
| NC_000006.11:g.143806319_143806323del , CM000668.1:g.143806319_143806323del | GRCh37 |
| NC_000006.10:g.143848012_143848016del | NCBI36 |
| NG_008459.1:g.39402_39406del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.972_976del MANE Select | ENSP00000356563.4:p.Lys324AsnfsTer14 | |
| ENST00000367591.4:c.972_976del | ENSP00000356563.4:p.Lys324AsnfsTer14 | |
| ENST00000585848.1:n.111_115del | ||
| NM_003630.2:c.972_976del | NP_003621.1:p.Lys324AsnfsTer14 | |
| NM_003630.3:c.972_976del MANE Select | NP_003621.1:p.Lys324AsnfsTer14 |