Linked Data
dbSNP Id:
rs1740424352
gnomAD v3:
5-32748662-A-ATTTTCAT
gnomAD v4:
5-32748662-A-ATTTTCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32748662_32748663insTTTTCAT , CM000667.2:g.32748662_32748663insTTTTCAT | GRCh38 |
| NC_000005.9:g.32748768_32748769insTTTTCAT , CM000667.1:g.32748768_32748769insTTTTCAT | GRCh37 |
| NC_000005.8:g.32784525_32784526insTTTTCAT | NCBI36 |
| NG_028162.1:g.43026_43027insTTTTCAT | |
| NG_028162.2:g.64587_64588insTTTTCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.1059+9632_1059+9633insTTTTCAT MANE Select | ENSP00000265074.8:n.1059+9632_1059+9633insTTTTCAT | |
| ENST00000265074.12:c.1059+9632_1059+9633insTTTTCAT | ENSP00000265074.8:n.1059+9632_1059+9633insTTTTCAT | |
| ENST00000326958.5:c.411+9632_411+9633insTTTTCAT | ENSP00000318340.2:n.411+9632_411+9633insTTTTCAT | |
| ENST00000415167.2:c.1059+9632_1059+9633insTTTTCAT | ENSP00000398028.2:n.1059+9632_1059+9633insTTTTCAT | |
| ENST00000434067.6:c.411+9632_411+9633insTTTTCAT | ENSP00000388408.2:n.411+9632_411+9633insTTTTCAT | |
| ENST00000506712.1:n.420+9632_420+9633insTTTTCAT | ||
| ENST00000509104.5:c.390+9632_390+9633insTTTTCAT | ENSP00000425325.1:n.390+9632_390+9633insTTTTCAT | |
| NM_000908.3:c.1059+9632_1059+9633insTTTTCAT | NP_000899.1:n.1059+9632_1059+9633insTTTTCAT | |
| NM_001204375.1:c.1059+9632_1059+9633insTTTTCAT | NP_001191304.1:n.1059+9632_1059+9633insTTTTCAT | |
| NM_001204376.1:c.411+9632_411+9633insTTTTCAT | NP_001191305.1:n.411+9632_411+9633insTTTTCAT | |
| XM_005248309.1:c.411+9632_411+9633insTTTTCAT | XP_005248366.1:n.411+9632_411+9633insTTTTCAT | |
| XM_011514047.1:c.390+9632_390+9633insTTTTCAT | XP_011512349.1:n.390+9632_390+9633insTTTTCAT | |
| XM_011514048.1:c.339+9632_339+9633insTTTTCAT | XP_011512350.1:n.339+9632_339+9633insTTTTCAT | |
| XM_011514049.1:c.282+9632_282+9633insTTTTCAT | XP_011512351.1:n.282+9632_282+9633insTTTTCAT | |
| NM_001363652.1:c.411+9632_411+9633insTTTTCAT | NP_001350581.1:n.411+9632_411+9633insTTTTCAT | |
| NM_001364458.1:c.339+9632_339+9633insTTTTCAT | NP_001351387.1:n.339+9632_339+9633insTTTTCAT | |
| NM_001364460.1:c.288+9632_288+9633insTTTTCAT | NP_001351389.1:n.288+9632_288+9633insTTTTCAT | |
| XM_011514047.2:c.390+9632_390+9633insTTTTCAT | XP_011512349.1:n.390+9632_390+9633insTTTTCAT | |
| XM_011514049.3:c.282+9632_282+9633insTTTTCAT | XP_011512351.1:n.282+9632_282+9633insTTTTCAT | |
| XM_017009492.2:c.936+9632_936+9633insTTTTCAT | XP_016864981.1:n.936+9632_936+9633insTTTTCAT | |
| NM_001204375.2:c.1059+9632_1059+9633insTTTTCAT MANE Select | NP_001191304.1:n.1059+9632_1059+9633insTTTTCAT | |
| NM_000908.4:c.1059+9632_1059+9633insTTTTCAT | NP_000899.1:n.1059+9632_1059+9633insTTTTCAT | |
| NM_001363652.2:c.411+9632_411+9633insTTTTCAT | NP_001350581.1:n.411+9632_411+9633insTTTTCAT | |
| NM_001364458.2:c.339+9632_339+9633insTTTTCAT | NP_001351387.1:n.339+9632_339+9633insTTTTCAT | |
| NM_001364460.2:c.288+9632_288+9633insTTTTCAT | NP_001351389.1:n.288+9632_288+9633insTTTTCAT | |
| NM_001204376.2:c.411+9632_411+9633insTTTTCAT | NP_001191305.1:n.411+9632_411+9633insTTTTCAT |