Linked Data
ClinVar Variation Id:
2961814
ClinVar RCV Id:
RCV003822460
dbSNP Id:
rs1418216618
gnomAD v3:
10-99830443-CTATT-C
gnomAD v4:
10-99830443-CTATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830444_99830447del , CM000672.2:g.99830444_99830447del | GRCh38 |
| NC_000010.10:g.101590201_101590204del , CM000672.1:g.101590201_101590204del | GRCh37 |
| NC_000010.9:g.101580191_101580194del | NCBI36 |
| NG_011798.1:g.52739_52742del | |
| NG_011798.2:g.52847_52850del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2747+11_2747+14del MANE Select | ENSP00000497274.1:n.2747+11_2747+14del | |
| ENST00000370449.8:c.2747+11_2747+14del | ENSP00000359478.4:n.2747+11_2747+14del | |
| NM_000392.4:c.2747+11_2747+14del | NP_000383.1:n.2747+11_2747+14del | |
| XM_006717630.2:c.2051+11_2051+14del | XP_006717693.1:n.2051+11_2051+14del | |
| XM_011539291.1:c.2747+11_2747+14del | XP_011537593.1:n.2747+11_2747+14del | |
| XR_945604.1:n.2936+11_2936+14del | ||
| XR_945605.1:n.2938+11_2938+14del | ||
| NM_000392.5:c.2747+11_2747+14del MANE Select | NP_000383.2:n.2747+11_2747+14del | |
| XM_006717630.3:c.2051+11_2051+14del | XP_006717693.1:n.2051+11_2051+14del | |
| XM_011539291.3:c.2747+11_2747+14del | XP_011537593.1:n.2747+11_2747+14del | |
| XR_945604.3:n.2990+11_2990+14del | ||
| XR_945605.3:n.2990+11_2990+14del |