Linked Data
dbSNP Id:
rs764917985
ExAC:
2:71351291 TAA / T
gnomAD v2:
2-71351291-TAA-T
gnomAD v4:
2-71124161-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124164_71124165del , CM000664.2:g.71124164_71124165del | GRCh38 |
| NC_000002.11:g.71351294_71351295del , CM000664.1:g.71351294_71351295del | GRCh37 |
| NC_000002.10:g.71204802_71204803del | NCBI36 |
| NG_008977.1:g.11102_11103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+43_378+44del MANE Select | ENSP00000244217.5:n.378+43_378+44del | |
| ENST00000244217.5:c.378+43_378+44del | ENSP00000244217.5:n.378+43_378+44del | |
| ENST00000413592.5:c.84+205_84+206del | ENSP00000391140.1:n.84+205_84+206del | |
| NM_032601.3:c.378+43_378+44del | NP_115990.3:n.378+43_378+44del | |
| XM_005264613.2:c.216+205_216+206del | XP_005264670.1:n.216+205_216+206del | |
| XR_939729.1:n.447+43_447+44del | ||
| XR_939729.2:n.447+43_447+44del | ||
| NM_032601.4:c.378+43_378+44del MANE Select | NP_115990.3:n.378+43_378+44del |