Linked Data
dbSNP Id:
rs2123472412
gnomAD v3:
21-45990467-TGGGGCGAGATGG-T
gnomAD v4:
21-45990467-TGGGGCGAGATGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990470_45990481del , CM000683.2:g.45990470_45990481del | GRCh38 |
| NC_000021.8:g.47410384_47410395del , CM000683.1:g.47410384_47410395del | GRCh37 |
| NC_000021.7:g.46234812_46234823del | NCBI36 |
| NG_008674.1:g.13722_13733del , LRG_475:g.13722_13733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+48_1002+59del MANE Select | ENSP00000355180.3:n.1002+48_1002+59del | |
| ENST00000361866.7:c.1002+48_1002+59del | ENSP00000355180.3:n.1002+48_1002+59del | |
| ENST00000612273.1:c.1002+48_1002+59del | ENSP00000483630.1:n.1002+48_1002+59del | |
| NM_001848.2:c.1002+48_1002+59del , LRG_475t1:c.1002+48_1002+59del | NP_001839.2:n.1002+48_1002+59del | |
| NM_001848.3:c.1002+48_1002+59del MANE Select | NP_001839.2:n.1002+48_1002+59del |