Linked Data
dbSNP Id:
rs765248635
ExAC:
17:56351066 ACTCCT / A
gnomAD v2:
17-56351066-ACTCCT-A
gnomAD v3:
17-58273705-ACTCCT-A
gnomAD v4:
17-58273705-ACTCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273707_58273711del , CM000679.2:g.58273707_58273711del | GRCh38 |
| NC_000017.10:g.56351068_56351072del , CM000679.1:g.56351068_56351072del | GRCh37 |
| NC_000017.9:g.53706067_53706071del | NCBI36 |
| NG_009629.1:g.12226_12230del , LRG_84:g.12226_12230del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.699-41_699-37del | ||
| ENST00000699291.1:c.491-41_491-37del | ENSP00000514272.1:n.491-41_491-37del | |
| ENST00000699292.1:n.365_369del | ||
| ENST00000225275.4:c.1366-41_1366-37del MANE Select | ENSP00000225275.3:n.1366-41_1366-37del | |
| ENST00000225275.3:c.1366-41_1366-37del | ENSP00000225275.3:n.1366-41_1366-37del | |
| NM_000250.1:c.1366-41_1366-37del , LRG_84t1:c.1366-41_1366-37del | NP_000241.1:n.1366-41_1366-37del | |
| XM_011524821.1:c.1552-41_1552-37del | XP_011523123.1:n.1552-41_1552-37del | |
| XM_011524822.1:c.1081-41_1081-37del | XP_011523124.1:n.1081-41_1081-37del | |
| XM_011524823.1:c.1391-41_1391-37del | XP_011523125.1:n.1391-41_1391-37del | |
| NM_000250.2:c.1366-41_1366-37del MANE Select | NP_000241.1:n.1366-41_1366-37del |