Linked Data
gnomAD v4:
2-240869471-ACCTTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869472_240869477del , CM000664.2:g.240869472_240869477del | GRCh38 |
| NC_000002.11:g.241808889_241808894del , CM000664.1:g.241808889_241808894del | GRCh37 |
| NC_000002.10:g.241457562_241457567del | NCBI36 |
| NG_008005.1:g.5728_5733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+110_358+115del MANE Select | ENSP00000302620.3:n.358+110_358+115del | |
| ENST00000307503.3:c.358+110_358+115del | ENSP00000302620.3:n.358+110_358+115del | |
| ENST00000472436.1:n.378+110_378+115del | ||
| NM_000030.2:c.358+110_358+115del | NP_000021.1:n.358+110_358+115del | |
| XR_924060.1:n.405+756_405+761del | ||
| NM_000030.3:c.358+110_358+115del MANE Select | NP_000021.1:n.358+110_358+115del |