Linked Data
ClinVar Variation Id:
440496
ClinVar RCV Id:
RCV000508923
dbSNP Id:
rs1555368758
gnomAD v3:
14-94381140-GC-G
gnomAD v4:
14-94381140-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94381142del , CM000676.2:g.94381142del | GRCh38 |
| NC_000014.8:g.94847479del , CM000676.1:g.94847479del | GRCh37 |
| NC_000014.7:g.93917232del | NCBI36 |
| NG_008290.1:g.14552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393087.9:c.647del | ||
| ENST00000636712.1:c.647del | ||
| ENST00000355814.8:c.647del | ||
| ENST00000393087.8:c.647del | ||
| ENST00000393088.8:c.647del | ||
| ENST00000402629.1:c.647del | ||
| ENST00000404814.8:c.647del | ||
| ENST00000437397.5:c.647del | ||
| ENST00000440909.5:c.647del | ||
| ENST00000448921.5:c.647del | ||
| ENST00000449399.7:c.647del | ||
| ENST00000489769.1:c.647del | ||
| NM_000295.4:c.647del | ||
| NM_001002235.2:c.647del | ||
| NM_001002236.2:c.647del | ||
| NM_001127700.1:c.647del | ||
| NM_001127701.1:c.647del | ||
| NM_001127702.1:c.647del | ||
| NM_001127703.1:c.647del | ||
| NM_001127704.1:c.647del | ||
| NM_001127705.1:c.647del | ||
| NM_001127706.1:c.647del | ||
| NM_001127707.1:c.647del | ||
| XM_017021370.1:c.647del | ||
| NM_000295.5:c.647del | ||
| NM_001002235.3:c.647del | ||
| NM_001002236.3:c.647del | ||
| NM_001127700.2:c.647del | ||
| NM_001127701.2:c.647del | ||
| NM_001127702.2:c.647del | ||
| NM_001127703.2:c.647del | ||
| NM_001127704.2:c.647del | ||
| NM_001127705.2:c.647del | ||
| NM_001127706.2:c.647del | ||
| NM_001127707.2:c.647del |