Linked Data
dbSNP Id:
rs764885406
ExAC:
12:52159411 TTGAG / T
gnomAD v2:
12-52159411-TTGAG-T
gnomAD v3:
12-51765627-TTGAG-T
gnomAD v4:
12-51765627-TTGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51765629_51765632del , CM000674.2:g.51765629_51765632del | GRCh38 |
| NC_000012.11:g.52159413_52159416del , CM000674.1:g.52159413_52159416del | GRCh37 |
| NC_000012.10:g.50445680_50445683del | NCBI36 |
| NG_021180.2:g.179394_179397del | |
| NG_021180.3:g.180672_180675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.2545-42_2545-39del MANE Plus Clinical | ENSP00000346534.4:n.2545-42_2545-39del | |
| ENST00000548086.3:c.392-42_392-39del | ||
| ENST00000627620.5:c.2545-42_2545-39del MANE Select | ENSP00000487583.2:n.2545-42_2545-39del | |
| ENST00000636945.2:c.549-42_549-39del | ||
| ENST00000662684.1:c.2545-42_2545-39del | ENSP00000499636.1:n.2545-42_2545-39del | |
| ENST00000668547.1:c.2545-42_2545-39del | ENSP00000499691.1:n.2545-42_2545-39del | |
| ENST00000354534.10:c.2545-42_2545-39del | ENSP00000346534.4:n.2545-42_2545-39del | |
| ENST00000355133.7:c.2545-42_2545-39del | ENSP00000347255.4:n.2545-42_2545-39del | |
| ENST00000545061.5:c.2545-42_2545-39del | ENSP00000440360.1:n.2545-42_2545-39del | |
| ENST00000550891.4:n.2673-42_2673-39del | ||
| ENST00000599343.5:c.2578-42_2578-39del | ENSP00000476447.3:n.2578-42_2578-39del | |
| ENST00000627620.2:c.2545-42_2545-39del | ENSP00000487583.1:n.2545-42_2545-39del | |
| NM_001177984.2:c.2545-42_2545-39del | NP_001171455.1:n.2545-42_2545-39del | |
| NM_014191.3:c.2545-42_2545-39del | NP_055006.1:n.2545-42_2545-39del | |
| XM_006719556.2:c.2545-42_2545-39del | XP_006719619.1:n.2545-42_2545-39del | |
| XM_011538650.1:c.2545-42_2545-39del | XP_011536952.1:n.2545-42_2545-39del | |
| XM_011538651.1:c.2545-42_2545-39del | XP_011536953.1:n.2545-42_2545-39del | |
| NM_001330260.1:c.2545-42_2545-39del | NP_001317189.1:n.2545-42_2545-39del | |
| XM_006719556.4:c.2545-42_2545-39del | XP_006719619.1:n.2545-42_2545-39del | |
| XM_011538651.3:c.2545-42_2545-39del | XP_011536953.1:n.2545-42_2545-39del | |
| XM_017019794.2:c.2545-42_2545-39del | XP_016875283.1:n.2545-42_2545-39del | |
| XM_017019795.2:c.2545-42_2545-39del | XP_016875284.1:n.2545-42_2545-39del | |
| XM_017019796.1:c.2545-42_2545-39del | XP_016875285.1:n.2545-42_2545-39del | |
| NM_001330260.2:c.2545-42_2545-39del MANE Select | NP_001317189.1:n.2545-42_2545-39del | |
| NM_001369788.1:c.2545-42_2545-39del | NP_001356717.1:n.2545-42_2545-39del | |
| NM_014191.4:c.2545-42_2545-39del MANE Plus Clinical | NP_055006.1:n.2545-42_2545-39del | |
| NM_001177984.3:c.2545-42_2545-39del | NP_001171455.1:n.2545-42_2545-39del |