Linked Data
dbSNP Id:
rs2048709952
gnomAD v3:
X-25013245-CTCCTCCTCGTCGTCCTCCAGCAGT-C
gnomAD v4:
X-25013245-CTCCTCCTCGTCGTCCTCCAGCAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013251_25013274del , CM000685.2:g.25013251_25013274del | GRCh38 |
| NC_000023.10:g.25031368_25031391del , CM000685.1:g.25031368_25031391del | GRCh37 |
| NC_000023.9:g.24941289_24941312del | NCBI36 |
| NG_008281.1:g.7680_7703del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.726_749del MANE Select | ENSP00000368332.4:p.Leu243_Glu250del | |
| ENST00000379044.4:c.726_749del | ENSP00000368332.4:p.Leu243_Glu250del | |
| NM_139058.2:c.726_749del | NP_620689.1:p.Leu243_Glu250del | |
| NM_139058.3:c.726_749del MANE Select | NP_620689.1:p.Leu243_Glu250del |