Linked Data
dbSNP Id:
rs1348511020
gnomAD v2:
22-19906794-CTATAG-C
gnomAD v3:
22-19919271-CTATAG-C
gnomAD v4:
22-19919271-CTATAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919272_19919276del , CM000684.2:g.19919272_19919276del | GRCh38 |
| NC_000022.10:g.19906795_19906799del , CM000684.1:g.19906795_19906799del | GRCh37 |
| NC_000022.9:g.18286795_18286799del | NCBI36 |
| NG_011835.1:g.27561_27565del , LRG_417:g.27561_27565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.229+267_230-268del MANE Select | ENSP00000383365.1:n.229+267_230-268del | |
| ENST00000334363.14:c.229+267_230-268del | ENSP00000334451.9:n.229+267_230-268del | |
| ENST00000400518.5:c.139+267_140-268del | ENSP00000383362.1:n.139+267_140-268del | |
| ENST00000400519.6:c.226+267_227-268del | ENSP00000383363.1:n.226+267_227-268del | |
| ENST00000400521.6:c.229+267_230-268del | ENSP00000383365.1:n.229+267_230-268del | |
| ENST00000400525.6:c.160+267_161-268del | ENSP00000383369.3:n.160+267_161-268del | |
| ENST00000474308.5:c.173-272_173-268del | ENSP00000485665.1:n.173-272_173-268del | |
| ENST00000491939.6:c.133+267_134-268del | ENSP00000485543.1:n.133+267_134-268del | |
| ENST00000496729.2:n.234+267_235-268del | ||
| ENST00000542719.6:c.-60+267_-59-268del | ENSP00000485128.2:n.-60+267_-59-268del | |
| NM_001282512.1:c.229+267_230-268del | NP_001269441.1:n.229+267_230-268del | |
| NM_006440.4:c.229+267_230-268del | NP_006431.2:n.229+267_230-268del | |
| NM_001282512.2:c.229+267_230-268del | NP_001269441.1:n.229+267_230-268del | |
| NM_001352300.1:c.226+267_227-268del | NP_001339229.1:n.226+267_227-268del | |
| NM_001352301.1:c.139+267_140-268del | NP_001339230.1:n.139+267_140-268del | |
| NM_001352302.1:c.-60+267_-59-268del | NP_001339231.1:n.-60+267_-59-268del | |
| NM_001352303.1:c.133+267_134-268del | NP_001339232.1:n.133+267_134-268del | |
| NR_147957.1:n.362-272_362-268del | ||
| NM_006440.5:c.229+267_230-268del MANE Select | NP_006431.2:n.229+267_230-268del | |
| NM_001282512.3:c.229+267_230-268del | NP_001269441.1:n.229+267_230-268del | |
| NM_001352300.2:c.226+267_227-268del | NP_001339229.1:n.226+267_227-268del | |
| NR_147957.2:n.188-272_188-268del | ||
| NM_001352301.2:c.139+267_140-268del | NP_001339230.1:n.139+267_140-268del | |
| NM_001352302.2:c.-60+267_-59-268del | NP_001339231.1:n.-60+267_-59-268del | |
| NM_001352303.2:c.133+267_134-268del | NP_001339232.1:n.133+267_134-268del |