Linked Data
ClinVar Variation Id:
1947026
ClinVar RCV Id:
RCV002654158
dbSNP Id:
rs1439114339
gnomAD v2:
2-203397288-AT-A
gnomAD v4:
2-202532565-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532566del , CM000664.2:g.202532566del | GRCh38 |
| NC_000002.11:g.203397289del , CM000664.1:g.203397289del | GRCh37 |
| NC_000002.10:g.203105534del | NCBI36 |
| NG_009363.1:g.161240del , LRG_712:g.161240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1129-19del MANE Select | ENSP00000363708.4:n.1129-19del | |
| ENST00000638587.1:c.1060-19del | ENSP00000491062.1:n.1060-19del | |
| ENST00000374574.2:c.1129-19del | ENSP00000363702.2:n.1129-19del | |
| ENST00000374580.8:c.1129-19del | ENSP00000363708.4:n.1129-19del | |
| NM_001204.6:c.1129-19del , LRG_712t1:c.1129-19del | NP_001195.2:n.1129-19del | |
| XM_011511687.1:c.1129-19del | XP_011509989.1:n.1129-19del | |
| XM_011511688.1:c.1129-19del | XP_011509990.1:n.1129-19del | |
| NM_001204.7:c.1129-19del MANE Select | NP_001195.2:n.1129-19del |