Linked Data
dbSNP Id:
rs2077495698
gnomAD v3:
19-40285303-G-GCGGCGA
gnomAD v4:
19-40285303-G-GCGGCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285306_40285311dup , CM000681.2:g.40285306_40285311dup | GRCh38 |
| NC_000019.9:g.40791213_40791218dup , CM000681.1:g.40791213_40791218dup | GRCh37 |
| NC_000019.8:g.45483053_45483058dup | NCBI36 |
| NG_012038.2:g.5050_5055dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.-213_-208dup MANE Select | ENSP00000375892.2:n.-213_-208dup | |
| ENST00000391844.8:c.-259_-254dup | ENSP00000375719.4:n.-259_-254dup | |
| ENST00000392038.6:c.-213_-208dup | ENSP00000375892.2:n.-213_-208dup | |
| ENST00000424901.5:c.-213_-208dup | ENSP00000399532.2:n.-213_-208dup | |
| ENST00000578123.5:c.-85+139_-85+144dup | ENSP00000462022.1:n.-85+139_-85+144dup | |
| ENST00000579047.5:c.-269_-264dup | ENSP00000471369.1:n.-269_-264dup | |
| ENST00000584288.5:c.-352_-347dup | ENSP00000462469.1:n.-352_-347dup | |
| NM_001243027.2:c.-362_-357dup | NP_001229956.1:n.-362_-357dup | |
| NM_001243028.2:c.-269_-264dup | NP_001229957.1:n.-269_-264dup | |
| NM_001626.5:c.-213_-208dup | NP_001617.1:n.-213_-208dup | |
| XM_011526620.1:c.-85+139_-85+144dup | XP_011524922.1:n.-85+139_-85+144dup | |
| XM_011526622.1:c.-213_-208dup | XP_011524924.1:n.-213_-208dup | |
| XM_011526622.2:c.-213_-208dup | XP_011524924.1:n.-213_-208dup | |
| XM_024451417.1:c.-213_-208dup | XP_024307185.1:n.-213_-208dup | |
| NM_001626.6:c.-213_-208dup MANE Select | NP_001617.1:n.-213_-208dup | |
| NM_001243027.3:c.-362_-357dup | NP_001229956.1:n.-362_-357dup | |
| NM_001243028.3:c.-269_-264dup | NP_001229957.1:n.-269_-264dup |