Linked Data
ClinVar Variation Id:
298039
dbSNP Id:
rs58815241
gnomAD v2:
1-70904523-T-TTGTGTG
gnomAD v3:
1-70438840-T-TTGTGTG
gnomAD v4:
1-70438840-T-TTGTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70438864_70438869dup , CM000663.2:g.70438864_70438869dup | GRCh38 |
| NC_000001.10:g.70904547_70904552dup , CM000663.1:g.70904547_70904552dup | GRCh37 |
| NC_000001.9:g.70677135_70677140dup | NCBI36 |
| NG_008041.1:g.32593_32598dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.1191+38_1191+43dup MANE Select | ENSP00000359976.3:n.1191+38_1191+43dup | |
| ENST00000346806.2:c.1059+38_1059+43dup | ENSP00000311554.2:n.1059+38_1059+43dup | |
| ENST00000370938.7:c.1191+38_1191+43dup | ENSP00000359976.3:n.1191+38_1191+43dup | |
| ENST00000411986.6:c.1095+38_1095+43dup | ENSP00000413407.2:n.1095+38_1095+43dup | |
| ENST00000482383.1:n.466+38_466+43dup | ||
| NM_001190463.1:c.1095+38_1095+43dup | NP_001177392.1:n.1095+38_1095+43dup | |
| NM_001902.5:c.1191+38_1191+43dup | NP_001893.2:n.1191+38_1191+43dup | |
| NM_153742.4:c.1059+38_1059+43dup | NP_714964.2:n.1059+38_1059+43dup | |
| XM_005270509.2:c.864+38_864+43dup | XP_005270566.1:n.864+38_864+43dup | |
| XM_011540787.1:c.621+38_621+43dup | XP_011539089.1:n.621+38_621+43dup | |
| XM_005270509.3:c.864+38_864+43dup | XP_005270566.1:n.864+38_864+43dup | |
| XM_017000416.2:c.621+38_621+43dup | XP_016855905.1:n.621+38_621+43dup | |
| NM_001902.6:c.1191+38_1191+43dup MANE Select | NP_001893.2:n.1191+38_1191+43dup | |
| NM_001190463.2:c.1095+38_1095+43dup | NP_001177392.1:n.1095+38_1095+43dup | |
| NM_153742.5:c.1059+38_1059+43dup | NP_714964.2:n.1059+38_1059+43dup |