Linked Data
ClinVar Variation Id:
1260847
ClinVar RCV Id:
RCV001669664
dbSNP Id:
rs71577199
gnomAD v2:
5-155935512-TAA-T
gnomAD v3:
5-156508502-TAA-T
gnomAD v4:
5-156508502-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156508513_156508514del , CM000667.2:g.156508513_156508514del | GRCh38 |
| NC_000005.9:g.155935523_155935524del , CM000667.1:g.155935523_155935524del | GRCh37 |
| NC_000005.8:g.155868101_155868102del | NCBI36 |
| NG_008693.2:g.643170_643171del , LRG_205:g.643170_643171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.193-88_193-87del MANE Select | ENSP00000338343.4:n.193-88_193-87del | |
| ENST00000337851.8:c.193-88_193-87del | ENSP00000338343.4:n.193-88_193-87del | |
| ENST00000435422.7:c.190-88_190-87del | ENSP00000403003.2:n.190-88_190-87del | |
| ENST00000517913.5:c.193-88_193-87del | ENSP00000429378.1:n.193-88_193-87del | |
| ENST00000524347.2:c.*57-88_*57-87del | ENSP00000430794.1:n.*57-88_*57-87del | |
| NM_000337.5:c.193-88_193-87del , LRG_205t1:c.193-88_193-87del | NP_000328.2:n.193-88_193-87del | |
| NM_001128209.1:c.190-88_190-87del | NP_001121681.1:n.190-88_190-87del | |
| NM_172244.2:c.193-88_193-87del | NP_758447.1:n.193-88_193-87del | |
| XM_005265966.3:c.193-88_193-87del | XP_005266023.1:n.193-88_193-87del | |
| XM_005265967.1:c.193-88_193-87del | XP_005266024.1:n.193-88_193-87del | |
| XM_006714911.2:c.193-88_193-87del | XP_006714974.1:n.193-88_193-87del | |
| XM_011534621.1:c.190-88_190-87del | XP_011532923.1:n.190-88_190-87del | |
| XM_005265966.5:c.193-88_193-87del | XP_005266023.1:n.193-88_193-87del | |
| XM_005265967.2:c.193-88_193-87del | XP_005266024.1:n.193-88_193-87del | |
| XM_011534621.2:c.190-88_190-87del | XP_011532923.1:n.190-88_190-87del | |
| XM_017009723.2:c.193-88_193-87del | XP_016865212.1:n.193-88_193-87del | |
| XM_017009724.1:c.193-88_193-87del | XP_016865213.1:n.193-88_193-87del | |
| NM_001128209.2:c.190-88_190-87del | NP_001121681.1:n.190-88_190-87del | |
| NM_172244.3:c.193-88_193-87del | NP_758447.1:n.193-88_193-87del | |
| NM_000337.6:c.193-88_193-87del MANE Select | NP_000328.2:n.193-88_193-87del |