Linked Data
gnomAD v4:
2-240877398-GCAAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877403_240877408del , CM000664.2:g.240877403_240877408del | GRCh38 |
| NC_000002.11:g.241816820_241816825del , CM000664.1:g.241816820_241816825del | GRCh37 |
| NC_000002.10:g.241465493_241465498del | NCBI36 |
| NG_008005.1:g.13659_13664del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-134_847-129del MANE Select | ENSP00000302620.3:n.847-134_847-129del | |
| ENST00000307503.3:c.847-134_847-129del | ENSP00000302620.3:n.847-134_847-129del | |
| ENST00000470255.1:n.491_496del | ||
| NM_000030.2:c.847-134_847-129del | NP_000021.1:n.847-134_847-129del | |
| NM_000030.3:c.847-134_847-129del MANE Select | NP_000021.1:n.847-134_847-129del |