Linked Data
gnomAD v4:
17-74763371-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763372del , CM000679.2:g.74763372del | GRCh38 |
| NC_000017.10:g.72759511del , CM000679.1:g.72759511del | GRCh37 |
| NC_000017.9:g.70271106del | NCBI36 |
| NG_013022.1:g.19749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.609del MANE Select | ENSP00000262613.5:p.Asn203LysfsTer? | |
| ENST00000262613.9:c.609del | ENSP00000262613.5:p.Asn203LysfsTer? | |
| ENST00000413388.2:c.141del | ENSP00000464982.1:p.Asn47LysfsTer? | |
| ENST00000578958.1:n.343del | ||
| ENST00000583369.5:c.442-4775del | ENSP00000464321.1:n.442-4775del | |
| NM_004252.4:c.609del | NP_004243.1:p.Asn203LysfsTer? | |
| XR_002958087.1:n.828del | ||
| NM_004252.5:c.609del MANE Select | NP_004243.1:p.Asn203LysfsTer? |