Linked Data
gnomAD v4:
2-240868898-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868900del , CM000664.2:g.240868900del | GRCh38 |
| NC_000002.11:g.241808317del , CM000664.1:g.241808317del | GRCh37 |
| NC_000002.10:g.241456990del | NCBI36 |
| NG_008005.1:g.5156del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.35del MANE Select | ENSP00000302620.3:p.Lys12ArgfsTer? | |
| ENST00000307503.3:c.35del | ENSP00000302620.3:p.Lys12ArgfsTer? | |
| ENST00000472436.1:n.55del | ||
| NM_000030.2:c.35del | NP_000021.1:p.Lys12ArgfsTer? | |
| XR_924060.1:n.405+1334del | ||
| NM_000030.3:c.35del MANE Select | NP_000021.1:p.Lys12ArgfsTer? |