Linked Data
ClinVar Variation Id:
2975719
ClinVar RCV Id:
RCV003833805
dbSNP Id:
rs769152921
ExAC:
10:101595826 ATTC / A
gnomAD v2:
10-101595826-ATTC-A
gnomAD v3:
10-99836069-ATTC-A
gnomAD v4:
10-99836069-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836072_99836074del , CM000672.2:g.99836072_99836074del | GRCh38 |
| NC_000010.10:g.101595829_101595831del , CM000672.1:g.101595829_101595831del | GRCh37 |
| NC_000010.9:g.101585819_101585821del | NCBI36 |
| NG_011798.1:g.58367_58369del | |
| NG_011798.2:g.58475_58477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3415-19_3415-17del MANE Select | ENSP00000497274.1:n.3415-19_3415-17del | |
| ENST00000370449.8:c.3415-19_3415-17del | ENSP00000359478.4:n.3415-19_3415-17del | |
| NM_000392.4:c.3415-19_3415-17del | NP_000383.1:n.3415-19_3415-17del | |
| XM_006717630.2:c.2719-19_2719-17del | XP_006717693.1:n.2719-19_2719-17del | |
| XR_945604.1:n.3604-19_3604-17del | ||
| XR_945605.1:n.3606-19_3606-17del | ||
| NM_000392.5:c.3415-19_3415-17del MANE Select | NP_000383.2:n.3415-19_3415-17del | |
| XM_006717630.3:c.2719-19_2719-17del | XP_006717693.1:n.2719-19_2719-17del | |
| XR_945604.3:n.3658-19_3658-17del | ||
| XR_945605.3:n.3658-19_3658-17del |