Linked Data
ClinVar Variation Id:
371152
dbSNP Id:
rs1057517047
gnomAD v4:
6-51659152-GAT-G
PubMed:
PMID:12506140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659154_51659155del , CM000668.2:g.51659154_51659155del | GRCh38 |
| NC_000006.11:g.51523952_51523953del , CM000668.1:g.51523952_51523953del | GRCh37 |
| NC_000006.10:g.51631911_51631912del | NCBI36 |
| NG_008753.1:g.433472_433473del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.10972_10973del MANE Select | ENSP00000360158.3:p.Ile3658LeufsTer7 | |
| ENST00000371117.7:c.10972_10973del | ENSP00000360158.3:p.Ile3658LeufsTer7 | |
| NM_138694.3:c.10972_10973del | NP_619639.3:p.Ile3658LeufsTer7 | |
| XM_011514679.1:c.10972_10973del | XP_011512981.1:p.Ile3658LeufsTer7 | |
| XM_011514680.1:c.10972_10973del | XP_011512982.1:p.Ile3658LeufsTer7 | |
| XM_011514681.1:c.10843_10844del | XP_011512983.1:p.Ile3615LeufsTer7 | |
| XM_011514682.1:c.10834_10835del | XP_011512984.1:p.Ile3612LeufsTer7 | |
| XM_011514683.1:c.10330_10331del | XP_011512985.1:p.Ile3444LeufsTer7 | |
| XM_011514684.1:c.10261_10262del | XP_011512986.1:p.Ile3421LeufsTer7 | |
| XM_011514687.1:c.10157-9934_10157-9933del | XP_011512989.1:n.10157-9934_10157-9933del... | |
| XM_011514690.1:c.5047_5048del | XP_011512992.1:p.Ile1683LeufsTer7 | |
| XM_011514691.1:c.5047_5048del | XP_011512993.1:p.Ile1683LeufsTer7 | |
| XR_926870.1:n.535+6781_535+6782del | ||
| XR_926871.1:n.403+6781_403+6782del | ||
| XR_926872.1:n.535+6781_535+6782del | ||
| XM_011514680.3:c.10972_10973del | XP_011512982.1:p.Ile3658LeufsTer7 | |
| XM_011514682.3:c.10834_10835del | XP_011512984.1:p.Ile3612LeufsTer7 | |
| XM_011514683.3:c.10330_10331del | XP_011512985.1:p.Ile3444LeufsTer7 | |
| XM_011514684.3:c.10261_10262del | XP_011512986.1:p.Ile3421LeufsTer7 | |
| XM_011514690.3:c.5047_5048del | XP_011512992.1:p.Ile1683LeufsTer7 | |
| XM_011514691.3:c.5047_5048del | XP_011512993.1:p.Ile1683LeufsTer7 | |
| XM_017010944.2:c.10972_10973del | XP_016866433.1:p.Ile3658LeufsTer7 | |
| XM_017010945.2:c.10897_10898del | XP_016866434.1:p.Ile3633LeufsTer7 | |
| XM_017010946.2:c.10777_10778del | XP_016866435.1:p.Ile3593LeufsTer7 | |
| XM_017010947.2:c.10708_10709del | XP_016866436.1:p.Ile3570LeufsTer7 | |
| XM_017010948.2:c.10261_10262del | XP_016866437.1:p.Ile3421LeufsTer7 | |
| XM_017010949.2:c.9112_9113del | XP_016866438.1:p.Ile3038LeufsTer7 | |
| XR_001743469.1:n.11248_11249del | ||
| XR_001744157.1:n.3145+6781_3145+6782del | ||
| XR_926870.2:n.3145+6781_3145+6782del | ||
| XR_926871.2:n.3013+6781_3013+6782del | ||
| XR_926872.2:n.3145+6781_3145+6782del | ||
| NM_138694.4:c.10972_10973del MANE Select | NP_619639.3:p.Ile3658LeufsTer7 |