Linked Data
dbSNP Id:
rs1309389024
gnomAD v2:
16-31200604-C-CAA
gnomAD v3:
16-31189283-C-CAA
gnomAD v4:
16-31189283-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189284_31189285insAA , CM000678.2:g.31189284_31189285insAA | GRCh38 |
| NC_000016.9:g.31200605_31200606insAA , CM000678.1:g.31200605_31200606insAA | GRCh37 |
| NC_000016.8:g.31108106_31108107insAA | NCBI36 |
| NG_012889.2:g.14153_14154insAA , LRG_655:g.14153_14154insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.936+58_936+59insAA MANE Select | ENSP00000254108.8:n.936+58_936+59insAA | |
| ENST00000254108.11:c.936+58_936+59insAA | ENSP00000254108.7:n.936+58_936+59insAA | |
| ENST00000380244.7:c.933+58_933+59insAA | ENSP00000369594.3:n.933+58_933+59insAA | |
| ENST00000474990.5:n.230+58_230+59insAA | ||
| ENST00000487509.6:n.4111+58_4111+59insAA | ||
| ENST00000564766.1:n.760+58_760+59insAA | ||
| ENST00000566605.5:c.*109+58_*109+59insAA | ENSP00000455073.1:n.*109+58_*109+59insAA | |
| ENST00000568685.1:c.939+58_939+59insAA | ENSP00000455282.1:n.939+58_939+59insAA | |
| ENST00000568901.2:n.310+58_310+59insAA | ||
| NM_001170634.1:c.933+58_933+59insAA | NP_001164105.1:n.933+58_933+59insAA | |
| NM_001170937.1:c.924+58_924+59insAA | NP_001164408.1:n.924+58_924+59insAA | |
| NM_004960.3:c.936+58_936+59insAA , LRG_655t1:c.936+58_936+59insAA | NP_004951.1:n.936+58_936+59insAA | |
| NR_028388.2:n.1006+58_1006+59insAA | ||
| XM_005255233.3:c.321+58_321+59insAA | XP_005255290.1:n.321+58_321+59insAA | |
| XM_011545781.1:c.930+58_930+59insAA | XP_011544083.1:n.930+58_930+59insAA | |
| XM_011545782.1:c.321+58_321+59insAA | XP_011544084.1:n.321+58_321+59insAA | |
| XM_005255233.5:c.321+58_321+59insAA | XP_005255290.1:n.321+58_321+59insAA | |
| XM_011545782.2:c.321+58_321+59insAA | XP_011544084.1:n.321+58_321+59insAA | |
| XM_024450221.1:c.927+58_927+59insAA | XP_024305989.1:n.927+58_927+59insAA | |
| NM_004960.4:c.936+58_936+59insAA MANE Select | NP_004951.1:n.936+58_936+59insAA |