Linked Data
dbSNP Id:
rs1275272268
gnomAD v2:
4-6302626-C-CT
gnomAD v3:
4-6300899-C-CT
gnomAD v4:
4-6300899-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300899_6300900insT , CM000666.2:g.6300899_6300900insT | GRCh38 |
| NC_000004.11:g.6302626_6302627insT , CM000666.1:g.6302626_6302627insT | GRCh37 |
| NC_000004.10:g.6353527_6353528insT | NCBI36 |
| NG_011700.1:g.36050_36051insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1140_1141insT | ENSP00000507852.1:p.Lys381Ter | |
| ENST00000683395.1:c.1081_1082insT | ||
| ENST00000684087.1:c.1104_1105insT | ENSP00000506978.1:p.Lys369Ter | |
| ENST00000506362.2:c.855_856insT | ENSP00000424103.2:p.Lys286Ter | |
| ENST00000673642.1:c.763_764insT | ENSP00000501242.1:p.Gln255LeufsTer? | |
| ENST00000673991.1:c.1140_1141insT | ENSP00000501033.1:p.Lys381Ter | |
| ENST00000226760.5:c.1104_1105insT MANE Select | ENSP00000226760.1:p.Lys369Ter | |
| ENST00000503569.5:c.1104_1105insT | ENSP00000423337.1:p.Lys369Ter | |
| ENST00000506362.1:c.737_738insT | ||
| ENST00000507765.1:n.1289_1290insT | ||
| NM_001145853.1:c.1104_1105insT | NP_001139325.1:p.Lys369Ter | |
| NM_006005.3:c.1104_1105insT MANE Select | NP_005996.2:p.Lys369Ter | |
| XM_017008586.1:c.1113_1114insT | XP_016864075.1:p.Lys372Ter |