Linked Data
gnomAD v3:
10-8073705-T-TAAAAAAAAAAAAAAAAAAA
gnomAD v4:
10-8073705-T-TAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8073723_8073724insAAAAAAAAAAAAAAAAAAA , CM000672.2:g.8073723_8073724insAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000010.10:g.8115686_8115687insAAAAAAAAAAAAAAAAAAA , CM000672.1:g.8115686_8115687insAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000010.9:g.8155692_8155693insAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_015859.1:g.24020_24021insAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | ENSP00000341619.3:n.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | |
| ENST00000379328.9:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000368632.3:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| ENST00000346208.3:c.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | ENSP00000341619.3:n.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | |
| ENST00000379328.7:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | ENSP00000368632.3:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| ENST00000461472.1:n.570-16_570-15insAAAAAAAAAAAAAAAAAAA | ||
| NM_001002295.1:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | NP_001002295.1:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| NM_002051.2:c.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | NP_002042.1:n.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | |
| XM_005252442.2:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | XP_005252499.1:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| XM_005252443.3:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | XP_005252500.1:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| XM_005252443.5:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | XP_005252500.1:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| NM_001002295.2:c.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA MANE Select | NP_001002295.1:n.1051-16_1051-15insAAAAAAAAAAAAAAAAAAA | |
| NM_002051.3:c.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA | NP_002042.1:n.1048-16_1048-15insAAAAAAAAAAAAAAAAAAA |