Linked Data
dbSNP Id:
rs747214558
ExAC:
17:48272059 AG / A
gnomAD v2:
17-48272059-AG-A
gnomAD v3:
17-50194698-AG-A
gnomAD v4:
17-50194698-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194703del , CM000679.2:g.50194703del | GRCh38 |
| NC_000017.10:g.48272064del , CM000679.1:g.48272064del | GRCh37 |
| NC_000017.9:g.45627063del | NCBI36 |
| NG_007400.1:g.11941del , LRG_1:g.11941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1461+22del MANE Select | ENSP00000225964.6:n.1461+22del | |
| ENST00000225964.9:c.1461+22del | ENSP00000225964.5:n.1461+22del | |
| ENST00000471344.1:n.405+22del | ||
| NM_000088.3:c.1461+22del , LRG_1t1:c.1461+22del | NP_000079.2:n.1461+22del | |
| XM_005257058.3:c.1461+22del | XP_005257115.2:n.1461+22del | |
| XM_005257059.3:c.957+1615del | XP_005257116.2:n.957+1615del | |
| XM_011524341.1:c.1263+22del | XP_011522643.1:n.1263+22del | |
| XM_005257058.4:c.1461+22del | XP_005257115.2:n.1461+22del | |
| XM_005257059.4:c.957+1615del | XP_005257116.2:n.957+1615del | |
| NM_000088.4:c.1461+22del MANE Select | NP_000079.2:n.1461+22del |