Linked Data
ClinVar Variation Id:
1242072
ClinVar RCV Id:
RCV001647922
dbSNP Id:
rs61677533
gnomAD v2:
14-23892645-AACACAC-A
gnomAD v3:
14-23423436-AACACAC-A
gnomAD v4:
14-23423436-AACACAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423482_23423487del , CM000676.2:g.23423482_23423487del | GRCh38 |
| NC_000014.8:g.23892691_23892696del , CM000676.1:g.23892691_23892696del | GRCh37 |
| NC_000014.7:g.22962531_22962536del | NCBI36 |
| NG_007884.1:g.17220_17225del , LRG_384:g.17220_17225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+105_3099+110del MANE Select | ENSP00000347507.3:n.3099+105_3099+110del | |
| ENST00000355349.3:c.3099+105_3099+110del | ENSP00000347507.3:n.3099+105_3099+110del | |
| NM_000257.3:c.3099+105_3099+110del | NP_000248.2:n.3099+105_3099+110del | |
| XR_245686.3:n.3205+105_3205+110del | ||
| XM_017021340.1:c.3099+105_3099+110del | XP_016876829.1:n.3099+105_3099+110del | |
| NM_000257.4:c.3099+105_3099+110del MANE Select | NP_000248.2:n.3099+105_3099+110del |