Linked Data
gnomAD v4:
6-44311159-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311162del , CM000668.2:g.44311162del | GRCh38 |
| NC_000006.11:g.44278899del , CM000668.1:g.44278899del | GRCh37 |
| NC_000006.10:g.44386877del | NCBI36 |
| NG_031952.1:g.7167del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.583del (AARS2) | ||
| ENST00000244571.4:c.583del (AARS2) | ||
| ENST00000505802.1:c.855+3520del | ||
| NM_020745.3:c.583del (AARS2) | ||
| XM_005249245.2:c.583del (AARS2) | ||
| XM_011514764.1:c.583del (AARS2) | ||
| XR_241907.2:n.618del (AARS2) | ||
| XM_005249245.3:c.583del (AARS2) | ||
| XM_011514764.2:c.583del (AARS2) | ||
| XM_017011112.1:c.-436del (AARS2) | ||
| NM_020745.4:c.583del (AARS2) | ||
| NM_001318876.2:c.946-130728del (POLR1C) | NP_001305805.1:n.946-130728del |