Linked Data
ClinVar Variation Id:
337453
ClinVar RCV Id:
RCV000265617
dbSNP Id:
rs139762991
gnomAD v2:
2-96916657-TA-T
gnomAD v3:
2-96250919-TA-T
gnomAD v4:
2-96250919-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250923del , CM000664.2:g.96250923del | GRCh38 |
| NC_000002.11:g.96916661del , CM000664.1:g.96916661del | GRCh37 |
| NC_000002.10:g.96280388del | NCBI36 |
| NG_027695.1:g.20094del , LRG_528:g.20094del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2888del MANE Select | ENSP00000258439.3:n.*2888del | |
| ENST00000258439.7:c.*2888del | ENSP00000258439.2:n.*2888del | |
| NM_001193304.2:c.*2888del | NP_001180233.1:n.*2888del | |
| NM_017849.3:c.*2888del , LRG_528t1:c.*2888del | NP_060319.1:n.*2888del | |
| XM_017004450.1:c.*2189del | XP_016859939.1:n.*2189del | |
| XM_017004452.1:c.*2888del | XP_016859941.1:n.*2888del | |
| NM_001193304.3:c.*2888del | NP_001180233.1:n.*2888del | |
| NM_017849.4:c.*2888del MANE Select | NP_060319.1:n.*2888del |