Linked Data
ClinVar Variation Id:
178835
ClinVar RCV Id:
RCV000155607
dbSNP Id:
rs727504478
gnomAD v2:
5-155754133-GGGCCTGCACACACTCAGCGGGCCGAGT-G
gnomAD v3:
5-156327123-GGGCCTGCACACACTCAGCGGGCCGAGT-G
gnomAD v4:
5-156327123-GGGCCTGCACACACTCAGCGGGCCGAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156327128_156327154del , CM000667.2:g.156327128_156327154del | GRCh38 |
| NC_000005.9:g.155754138_155754164del , CM000667.1:g.155754138_155754164del | GRCh37 |
| NC_000005.8:g.155686716_155686742del | NCBI36 |
| NG_008693.2:g.461785_461811del , LRG_205:g.461785_461811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.8:c.-148_-122del | ENSP00000338343.4:n.-148_-122del | |
| ENST00000435422.7:c.-105_-79del | ENSP00000403003.2:n.-105_-79del | |
| ENST00000517913.5:c.-43-2406_-43-2380del | ENSP00000429378.1:n.-43-2406_-43-2380del | |
| ENST00000524347.2:c.-148_-122del | ENSP00000430794.1:n.-148_-122del | |
| NM_000337.5:c.-148_-122del , LRG_205t1:c.-148_-122del | NP_000328.2:n.-148_-122del | |
| NM_001128209.1:c.-105_-79del | NP_001121681.1:n.-105_-79del | |
| NM_172244.2:c.-148_-122del | NP_758447.1:n.-148_-122del | |
| XM_006714911.2:c.-43-2406_-43-2380del | XP_006714974.1:n.-43-2406_-43-2380del | |
| XM_011534621.1:c.1-17361_1-17335del | XP_011532923.1:n.1-17361_1-17335del | |
| XR_941123.1:n.254+20303_254+20329del | ||
| XM_011534621.2:c.1-17361_1-17335del | XP_011532923.1:n.1-17361_1-17335del | |
| XM_017009723.2:c.-43-2406_-43-2380del | XP_016865212.1:n.-43-2406_-43-2380del | |
| XM_017009724.1:c.-43-2406_-43-2380del | XP_016865213.1:n.-43-2406_-43-2380del |