gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899255_4899256insA , CM000679.2:g.4899255_4899256insA | GRCh38 |
| NC_000017.10:g.4802550_4802551insA , CM000679.1:g.4802550_4802551insA | GRCh37 |
| NC_000017.9:g.4743329_4743330insA | NCBI36 |
| NG_008029.2:g.8820_8821insT | |
| NG_028005.1:g.70916_70917insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1161_1162insT MANE Select | ENSP00000497829.1:p.Lys388Ter | |
| ENST00000649830.1:c.228_229insT | ENSP00000496907.1:p.Lys77Ter | |
| ENST00000652550.1:n.891_892insT | ||
| ENST00000293780.4:c.1161_1162insT | ENSP00000293780.4:p.Lys388Ter | |
| ENST00000572438.1:n.847_848insT | ||
| NM_000080.3:c.1161_1162insT | NP_000071.1:p.Lys388Ter | |
| NM_000080.4:c.1161_1162insT MANE Select | NP_000071.1:p.Lys388Ter | |
| XM_017024115.1:c.1125_1126insT | XP_016879604.1:p.Lys376Ter |