Linked Data
ClinVar Variation Id:
2678881
ClinVar RCV Id:
RCV003472857
gnomAD v4:
5-149978263-TAAATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978265_149978269del , CM000667.2:g.149978265_149978269del | GRCh38 |
| NC_000005.9:g.149357828_149357832del , CM000667.1:g.149357828_149357832del | GRCh37 |
| NC_000005.8:g.149338021_149338025del | NCBI36 |
| NG_007147.2:g.19383_19387del , LRG_684:g.19383_19387del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.845_849del | ||
| ENST00000286298.5:c.613_617del MANE Select | ENSP00000286298.4:p.Asn205TyrfsTer7 | |
| ENST00000286298.4:c.613_617del | ENSP00000286298.4:p.Asn205TyrfsTer7 | |
| ENST00000503336.1:c.286_290del | ENSP00000426053.1:p.Asn96TyrfsTer7 | |
| NM_000112.3:c.613_617del , LRG_684t1:c.613_617del | NP_000103.2:p.Asn205TyrfsTer7 | |
| XM_017009191.2:c.613_617del | XP_016864680.1:p.Asn205TyrfsTer7 | |
| NM_000112.4:c.613_617del MANE Select | NP_000103.2:p.Asn205TyrfsTer7 |