Linked Data
ClinVar Variation Id:
3223717
ClinVar RCV Id:
RCV004516481
dbSNP Id:
rs768469627
gnomAD v2:
5-236589-ACGCCTGTGGGGAGGC-A
gnomAD v4:
5-236474-ACGCCTGTGGGGAGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236483_236497del , CM000667.2:g.236483_236497del | GRCh38 |
| NC_000005.9:g.236598_236612del , CM000667.1:g.236598_236612del | GRCh37 |
| NC_000005.8:g.289598_289612del | NCBI36 |
| NG_012339.1:g.23243_23257del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1316_1330del MANE Select | ENSP00000264932.6:p.Gly439_Cys443del | |
| ENST00000651543.1:c.*49_*63del | ENSP00000499215.1:n.*49_*63del | |
| ENST00000264932.10:c.1316_1330del | ENSP00000264932.6:p.Gly439_Cys443del | |
| ENST00000504309.5:c.1316_1330del | ENSP00000426514.1:p.Gly439_Cys443del | |
| ENST00000505555.5:n.1356_1370del | ||
| ENST00000510361.5:c.1172_1186del | ENSP00000427703.1:p.Gly391_Cys395del | |
| ENST00000511810.5:n.2063_2077del | ||
| ENST00000512962.5:n.902_916del | ||
| ENST00000514027.5:n.1271_1285del | ||
| ENST00000515752.5:n.902_916del | ||
| ENST00000617470.4:c.881_895del | ENSP00000484230.1:p.Gly294_Cys298del | |
| NM_001294332.1:c.1172_1186del | NP_001281261.1:p.Gly391_Cys395del | |
| NM_004168.3:c.1316_1330del | NP_004159.2:p.Gly439_Cys443del | |
| XM_005248331.2:c.1316_1330del | XP_005248388.1:p.Gly439_Cys443del | |
| XM_011514072.1:c.1316_1330del | XP_011512374.1:p.Gly439_Cys443del | |
| XM_011514073.1:c.1316_1330del | XP_011512375.1:p.Gly439_Cys443del | |
| XR_925638.1:n.1449_1463del | ||
| NM_001330758.1:c.1316_1330del | NP_001317687.1:p.Gly439_Cys443del | |
| XM_011514072.2:c.1316_1330del | XP_011512374.1:p.Gly439_Cys443del | |
| XM_011514073.2:c.1316_1330del | XP_011512375.1:p.Gly439_Cys443del | |
| XM_017009685.2:c.1316_1330del | XP_016865174.1:p.Gly439_Cys443del | |
| XM_024446143.1:c.1172_1186del | XP_024301911.1:p.Gly391_Cys395del | |
| XR_002956167.1:n.1363_1377del | ||
| NM_004168.4:c.1316_1330del MANE Select | NP_004159.2:p.Gly439_Cys443del | |
| NM_001294332.2:c.1172_1186del | NP_001281261.1:p.Gly391_Cys395del | |
| NM_001330758.2:c.1316_1330del | NP_001317687.1:p.Gly439_Cys443del |