Linked Data
ClinVar Variation Id:
290862
dbSNP Id:
rs762914474
gnomAD v2:
10-101594275-ATT-A
gnomAD v4:
10-99834518-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99834520_99834521del , CM000672.2:g.99834520_99834521del | GRCh38 |
| NC_000010.10:g.101594277_101594278del , CM000672.1:g.101594277_101594278del | GRCh37 |
| NC_000010.9:g.101584267_101584268del | NCBI36 |
| NG_011798.1:g.56815_56816del | |
| NG_011798.2:g.56923_56924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3399_3400del MANE Select | ENSP00000497274.1:p.Tyr1134CysfsTer? | |
| ENST00000370449.8:c.3399_3400del | ENSP00000359478.4:p.Tyr1134CysfsTer? | |
| NM_000392.4:c.3399_3400del | NP_000383.1:p.Tyr1134CysfsTer? | |
| XM_006717630.2:c.2703_2704del | XP_006717693.1:p.Tyr902CysfsTer? | |
| XR_945604.1:n.3588_3589del | ||
| XR_945605.1:n.3590_3591del | ||
| NM_000392.5:c.3399_3400del MANE Select | NP_000383.2:p.Tyr1134CysfsTer? | |
| XM_006717630.3:c.2703_2704del | XP_006717693.1:p.Tyr902CysfsTer? | |
| XR_945604.3:n.3642_3643del | ||
| XR_945605.3:n.3642_3643del |