Linked Data
gnomAD v4:
2-240878715-TGCTGCGGATCGGCCTGCTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878721_240878740del , CM000664.2:g.240878721_240878740del | GRCh38 |
| NC_000002.11:g.241818138_241818157del , CM000664.1:g.241818138_241818157del | GRCh37 |
| NC_000002.10:g.241466811_241466830del | NCBI36 |
| NG_008005.1:g.14977_14996del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1079_1098del MANE Select | ENSP00000302620.3:p.Arg360GlnfsTer? | |
| ENST00000307503.3:c.1079_1098del | ENSP00000302620.3:p.Arg360GlnfsTer? | |
| ENST00000470255.1:n.857_876del | ||
| NM_000030.2:c.1079_1098del | NP_000021.1:p.Arg360GlnfsTer? | |
| NM_000030.3:c.1079_1098del MANE Select | NP_000021.1:p.Arg360GlnfsTer? |