Linked Data
gnomAD v4:
4-24800334-CTGAGGTCTCACCTTCGCCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800337_24800356del , CM000666.2:g.24800337_24800356del | GRCh38 |
| NC_000004.11:g.24801959_24801978del , CM000666.1:g.24801959_24801978del | GRCh37 |
| NC_000004.10:g.24411057_24411076del | NCBI36 |
| NG_012213.1:g.9875_9894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.*93_*112del MANE Select | ENSP00000371554.3:n.*93_*112del | |
| ENST00000382120.3:c.*93_*112del | ENSP00000371554.3:n.*93_*112del | |
| NM_003102.2:c.*93_*112del | NP_003093.2:n.*93_*112del | |
| XR_427488.1:n.1006_1025del | ||
| NM_003102.3:c.*93_*112del | NP_003093.2:n.*93_*112del | |
| NM_003102.4:c.*93_*112del MANE Select | NP_003093.2:n.*93_*112del |