Linked Data
dbSNP Id:
rs757842484
ExAC:
11:6414428 ATGTT / A
gnomAD v2:
11-6414428-ATGTT-A
gnomAD v4:
11-6393198-ATGTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393200_6393203del , CM000673.2:g.6393200_6393203del | GRCh38 |
| NC_000011.9:g.6414430_6414433del , CM000673.1:g.6414430_6414433del | GRCh37 |
| NC_000011.8:g.6371006_6371009del | NCBI36 |
| NG_011780.1:g.7776_7779del | |
| NG_029615.1:g.31213_31216del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1092-16_1092-13del MANE Select | ENSP00000340409.4:n.1092-16_1092-13del | |
| ENST00000342245.8:c.1092-16_1092-13del | ENSP00000340409.4:n.1092-16_1092-13del | |
| ENST00000526280.1:c.321-417_321-414del | ||
| ENST00000527275.5:c.1089-16_1089-13del | ENSP00000435350.1:n.1089-16_1089-13del | |
| ENST00000531303.5:c.439-16_439-13del | ENSP00000432625.1:n.439-16_439-13del | |
| ENST00000533123.5:c.1092-417_1092-414del | ENSP00000435950.1:n.1092-417_1092-414del | |
| ENST00000534405.5:c.1132-16_1132-13del | ENSP00000434353.1:n.1132-16_1132-13del | |
| NM_000543.4:c.1092-16_1092-13del | NP_000534.3:n.1092-16_1092-13del | |
| NM_001007593.2:c.1089-16_1089-13del | NP_001007594.2:n.1089-16_1089-13del | |
| XM_005253075.3:c.1092-16_1092-13del | XP_005253132.1:n.1092-16_1092-13del | |
| XM_011520303.1:c.1132-417_1132-414del | XP_011518605.1:n.1132-417_1132-414del | |
| XM_011520304.1:c.1132-417_1132-414del | XP_011518606.1:n.1132-417_1132-414del | |
| XR_930886.1:n.1430-16_1430-13del | ||
| NM_001318087.1:c.1092-16_1092-13del | NP_001305016.1:n.1092-16_1092-13del | |
| NM_001318088.1:c.171-16_171-13del | NP_001305017.1:n.171-16_171-13del | |
| NM_001365135.1:c.1132-417_1132-414del | NP_001352064.1:n.1132-417_1132-414del | |
| NR_027400.2:n.1277-417_1277-414del | ||
| NR_134502.1:n.624-16_624-13del | ||
| XM_011520304.2:c.1132-417_1132-414del | XP_011518606.1:n.1132-417_1132-414del | |
| XR_001747940.2:n.1257-16_1257-13del | ||
| XR_002957158.1:n.1257-16_1257-13del | ||
| NM_000543.5:c.1092-16_1092-13del MANE Select | NP_000534.3:n.1092-16_1092-13del | |
| NM_001007593.3:c.1089-16_1089-13del | NP_001007594.2:n.1089-16_1089-13del | |
| NM_001318087.2:c.1092-16_1092-13del | NP_001305016.1:n.1092-16_1092-13del | |
| NM_001318088.2:c.171-16_171-13del | NP_001305017.1:n.171-16_171-13del | |
| NM_001365135.2:c.1132-417_1132-414del | NP_001352064.1:n.1132-417_1132-414del | |
| NR_027400.3:n.1217-417_1217-414del | ||
| NR_134502.2:n.564-16_564-13del |