Linked Data
gnomAD v4:
2-240869413-TCCCTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869416_240869421del , CM000664.2:g.240869416_240869421del | GRCh38 |
| NC_000002.11:g.241808833_241808838del , CM000664.1:g.241808833_241808838del | GRCh37 |
| NC_000002.10:g.241457506_241457511del | NCBI36 |
| NG_008005.1:g.5672_5677del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+54_358+59del MANE Select | ENSP00000302620.3:n.358+54_358+59del | |
| ENST00000307503.3:c.358+54_358+59del | ENSP00000302620.3:n.358+54_358+59del | |
| ENST00000472436.1:n.378+54_378+59del | ||
| NM_000030.2:c.358+54_358+59del | NP_000021.1:n.358+54_358+59del | |
| XR_924060.1:n.405+814_405+819del | ||
| NM_000030.3:c.358+54_358+59del MANE Select | NP_000021.1:n.358+54_358+59del |