Linked Data
gnomAD v4:
2-240869413-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869415_240869416del , CM000664.2:g.240869415_240869416del | GRCh38 |
| NC_000002.11:g.241808832_241808833del , CM000664.1:g.241808832_241808833del | GRCh37 |
| NC_000002.10:g.241457505_241457506del | NCBI36 |
| NG_008005.1:g.5671_5672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+53_358+54del MANE Select | ENSP00000302620.3:n.358+53_358+54del | |
| ENST00000307503.3:c.358+53_358+54del | ENSP00000302620.3:n.358+53_358+54del | |
| ENST00000472436.1:n.378+53_378+54del | ||
| NM_000030.2:c.358+53_358+54del | NP_000021.1:n.358+53_358+54del | |
| XR_924060.1:n.405+818_405+819del | ||
| NM_000030.3:c.358+53_358+54del MANE Select | NP_000021.1:n.358+53_358+54del |