Linked Data
ClinVar Variation Id:
370339
ClinVar RCV Id:
RCV000409842
dbSNP Id:
rs1057516413
gnomAD v4:
6-51748142-C-CATGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51748143_51748146dup , CM000668.2:g.51748143_51748146dup | GRCh38 |
| NC_000006.11:g.51612941_51612944dup , CM000668.1:g.51612941_51612944dup | GRCh37 |
| NC_000006.10:g.51720900_51720903dup | NCBI36 |
| NG_008753.1:g.344480_344483dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.9470_9473dup MANE Select | ENSP00000360158.3:p.Met3158IlefsTer? | |
| ENST00000340994.4:c.9470_9473dup | ENSP00000341097.4:p.Met3158IlefsTer? | |
| ENST00000371117.7:c.9470_9473dup | ENSP00000360158.3:p.Met3158IlefsTer? | |
| NM_138694.3:c.9470_9473dup | NP_619639.3:p.Met3158IlefsTer? | |
| NM_170724.2:c.9470_9473dup | NP_733842.2:p.Met3158IlefsTer? | |
| XM_011514679.1:c.9470_9473dup | XP_011512981.1:p.Met3158IlefsTer? | |
| XM_011514680.1:c.9470_9473dup | XP_011512982.1:p.Met3158IlefsTer? | |
| XM_011514681.1:c.9341_9344dup | XP_011512983.1:p.Met3115IlefsTer? | |
| XM_011514682.1:c.9332_9335dup | XP_011512984.1:p.Met3112IlefsTer? | |
| XM_011514683.1:c.8828_8831dup | XP_011512985.1:p.Met2944IlefsTer? | |
| XM_011514684.1:c.8759_8762dup | XP_011512986.1:p.Met2921IlefsTer? | |
| XM_011514685.1:c.9470_9473dup | XP_011512987.1:p.Met3158IlefsTer? | |
| XM_011514686.1:c.9470_9473dup | XP_011512988.1:p.Met3158IlefsTer? | |
| XM_011514687.1:c.9470_9473dup | XP_011512989.1:p.Met3158IlefsTer? | |
| XM_011514688.1:c.9470_9473dup | XP_011512990.1:p.Met3158IlefsTer? | |
| XM_011514690.1:c.3545_3548dup | XP_011512992.1:p.Met1183IlefsTer? | |
| XM_011514691.1:c.3545_3548dup | XP_011512993.1:p.Met1183IlefsTer? | |
| XM_011514680.3:c.9470_9473dup | XP_011512982.1:p.Met3158IlefsTer? | |
| XM_011514682.3:c.9332_9335dup | XP_011512984.1:p.Met3112IlefsTer? | |
| XM_011514683.3:c.8828_8831dup | XP_011512985.1:p.Met2944IlefsTer? | |
| XM_011514684.3:c.8759_8762dup | XP_011512986.1:p.Met2921IlefsTer? | |
| XM_011514686.2:c.9470_9473dup | XP_011512988.1:p.Met3158IlefsTer? | |
| XM_011514688.2:c.9470_9473dup | XP_011512990.1:p.Met3158IlefsTer? | |
| XM_011514690.3:c.3545_3548dup | XP_011512992.1:p.Met1183IlefsTer? | |
| XM_011514691.3:c.3545_3548dup | XP_011512993.1:p.Met1183IlefsTer? | |
| XM_017010944.2:c.9470_9473dup | XP_016866433.1:p.Met3158IlefsTer? | |
| XM_017010945.2:c.9395_9398dup | XP_016866434.1:p.Met3133IlefsTer? | |
| XM_017010946.2:c.9275_9278dup | XP_016866435.1:p.Met3093IlefsTer? | |
| XM_017010947.2:c.9206_9209dup | XP_016866436.1:p.Met3070IlefsTer? | |
| XM_017010948.2:c.8759_8762dup | XP_016866437.1:p.Met2921IlefsTer? | |
| XM_017010949.2:c.7610_7613dup | XP_016866438.1:p.Met2538IlefsTer? | |
| XM_017010950.1:c.9470_9473dup | XP_016866439.1:p.Met3158IlefsTer? | |
| XR_001743469.1:n.9746_9749dup | ||
| NM_138694.4:c.9470_9473dup MANE Select | NP_619639.3:p.Met3158IlefsTer? | |
| NM_170724.3:c.9470_9473dup | NP_733842.2:p.Met3158IlefsTer? |