Linked Data
dbSNP Id:
rs773177409
ExAC:
17:48273364 AGAAG / A
gnomAD v2:
17-48273364-AGAAG-A
gnomAD v3:
17-50196003-AGAAG-A
gnomAD v4:
17-50196003-AGAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196008_50196011del , CM000679.2:g.50196008_50196011del | GRCh38 |
| NC_000017.10:g.48273369_48273372del , CM000679.1:g.48273369_48273372del | GRCh37 |
| NC_000017.9:g.45628368_45628371del | NCBI36 |
| NG_007400.1:g.10633_10636del , LRG_1:g.10633_10636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1003-31_1003-28del MANE Select | ENSP00000225964.6:n.1003-31_1003-28del | |
| ENST00000225964.9:c.1003-31_1003-28del | ENSP00000225964.5:n.1003-31_1003-28del | |
| NM_000088.3:c.1003-31_1003-28del , LRG_1t1:c.1003-31_1003-28del | NP_000079.2:n.1003-31_1003-28del | |
| XM_005257058.3:c.1003-31_1003-28del | XP_005257115.2:n.1003-31_1003-28del | |
| XM_005257059.3:c.957+307_957+310del | XP_005257116.2:n.957+307_957+310del | |
| XM_011524341.1:c.957+307_957+310del | XP_011522643.1:n.957+307_957+310del | |
| XM_005257058.4:c.1003-31_1003-28del | XP_005257115.2:n.1003-31_1003-28del | |
| XM_005257059.4:c.957+307_957+310del | XP_005257116.2:n.957+307_957+310del | |
| NM_000088.4:c.1003-31_1003-28del MANE Select | NP_000079.2:n.1003-31_1003-28del |