Linked Data
gnomAD v4:
2-240869409-GGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869410_240869412del , CM000664.2:g.240869410_240869412del | GRCh38 |
| NC_000002.11:g.241808827_241808829del , CM000664.1:g.241808827_241808829del | GRCh37 |
| NC_000002.10:g.241457500_241457502del | NCBI36 |
| NG_008005.1:g.5666_5668del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+48_358+50del MANE Select | ENSP00000302620.3:n.358+48_358+50del | |
| ENST00000307503.3:c.358+48_358+50del | ENSP00000302620.3:n.358+48_358+50del | |
| ENST00000472436.1:n.378+48_378+50del | ||
| NM_000030.2:c.358+48_358+50del | NP_000021.1:n.358+48_358+50del | |
| XR_924060.1:n.405+821_405+823del | ||
| NM_000030.3:c.358+48_358+50del MANE Select | NP_000021.1:n.358+48_358+50del |