Linked Data
dbSNP Id:
rs1396189633
gnomAD v2:
2-71351294-AAG-A
gnomAD v3:
2-71124164-AAG-A
gnomAD v4:
2-71124164-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124170_71124171del , CM000664.2:g.71124170_71124171del | GRCh38 |
| NC_000002.11:g.71351300_71351301del , CM000664.1:g.71351300_71351301del | GRCh37 |
| NC_000002.10:g.71204808_71204809del | NCBI36 |
| NG_008977.1:g.11099_11100del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+40_378+41del MANE Select | ENSP00000244217.5:n.378+40_378+41del | |
| ENST00000244217.5:c.378+40_378+41del | ENSP00000244217.5:n.378+40_378+41del | |
| ENST00000413592.5:c.84+202_84+203del | ENSP00000391140.1:n.84+202_84+203del | |
| NM_032601.3:c.378+40_378+41del | NP_115990.3:n.378+40_378+41del | |
| XM_005264613.2:c.216+202_216+203del | XP_005264670.1:n.216+202_216+203del | |
| XR_939729.1:n.447+40_447+41del | ||
| XR_939729.2:n.447+40_447+41del | ||
| NM_032601.4:c.378+40_378+41del MANE Select | NP_115990.3:n.378+40_378+41del |