Linked Data
ClinVar Variation Id:
436511
dbSNP Id:
rs757747543
ExAC:
18:20573010 TTATAAA / T
gnomAD v2:
18-20573010-TTATAAA-T
gnomAD v3:
18-22993047-TTATAAA-T
gnomAD v4:
18-22993047-TTATAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22993050_22993055del , CM000680.2:g.22993050_22993055del | GRCh38 |
| NC_000018.9:g.20573013_20573018del , CM000680.1:g.20573013_20573018del | GRCh37 |
| NC_000018.8:g.18827011_18827016del | NCBI36 |
| NG_012121.1:g.64719_64724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.1223_1228del MANE Select | ENSP00000323050.5:p.Ile408_Asn409del | |
| ENST00000327155.9:c.1223_1228del | ENSP00000323050.5:p.Ile408_Asn409del | |
| ENST00000360790.9:c.1223_1228del | ENSP00000354024.5:p.Ile408_Asn409del | |
| ENST00000399721.6:c.1223_1228del | ENSP00000382627.2:p.Ile408_Asn409del | |
| ENST00000399722.6:c.1223_1228del | ENSP00000382628.2:p.Ile408_Asn409del | |
| ENST00000399725.6:c.1223_1228del | ENSP00000382630.2:p.Ile408_Asn409del | |
| NM_002894.2:c.1223_1228del | NP_002885.1:p.Ile408_Asn409del | |
| NM_203291.1:c.1223_1228del | NP_976036.1:p.Ile408_Asn409del | |
| NM_203292.1:c.1223_1228del | NP_976037.1:p.Ile408_Asn409del | |
| XM_005258325.1:c.1223_1228del | XP_005258382.1:p.Ile408_Asn409del | |
| XM_005258326.2:c.401_406del | XP_005258383.1:p.Ile134_Asn135del | |
| XM_006722519.1:c.1223_1228del | XP_006722582.1:p.Ile408_Asn409del | |
| XM_006722520.1:c.1223_1228del | XP_006722583.1:p.Ile408_Asn409del | |
| XM_006722521.1:c.1223_1228del | XP_006722584.1:p.Ile408_Asn409del | |
| XM_011526132.1:c.1223_1228del | XP_011524434.1:p.Ile408_Asn409del | |
| XM_005258325.3:c.1223_1228del | XP_005258382.1:p.Ile408_Asn409del | |
| XM_005258326.4:c.401_406del | XP_005258383.1:p.Ile134_Asn135del | |
| XM_006722519.2:c.1223_1228del | XP_006722582.1:p.Ile408_Asn409del | |
| XM_006722520.2:c.1223_1228del | XP_006722583.1:p.Ile408_Asn409del | |
| XM_006722521.2:c.1223_1228del | XP_006722584.1:p.Ile408_Asn409del | |
| XM_011526132.2:c.1223_1228del | XP_011524434.1:p.Ile408_Asn409del | |
| XM_017025916.1:c.401_406del | XP_016881405.1:p.Ile134_Asn135del | |
| XM_024451233.1:c.929_934del | XP_024307001.1:p.Ile310_Asn311del | |
| NM_002894.3:c.1223_1228del MANE Select | NP_002885.1:p.Ile408_Asn409del | |
| NM_203291.2:c.1223_1228del | NP_976036.1:p.Ile408_Asn409del | |
| NM_203292.2:c.1223_1228del | NP_976037.1:p.Ile408_Asn409del |