Linked Data
dbSNP Id:
rs1383785989
gnomAD v2:
2-220290361-AGT-A
gnomAD v3:
2-219425639-AGT-A
gnomAD v4:
2-219425639-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425643_219425644del , CM000664.2:g.219425643_219425644del | GRCh38 |
| NC_000002.11:g.220290365_220290366del , CM000664.1:g.220290365_220290366del | GRCh37 |
| NC_000002.10:g.219998609_219998610del | NCBI36 |
| NG_008043.1:g.12267_12268del , LRG_380:g.12267_12268del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.763-20_763-19del | ||
| ENST00000683013.1:n.677-20_677-19del | ||
| ENST00000373960.4:c.1289-20_1289-19del MANE Select | ENSP00000363071.3:n.1289-20_1289-19del | |
| ENST00000373960.3:c.1289-20_1289-19del | ENSP00000363071.3:n.1289-20_1289-19del | |
| ENST00000483395.1:n.124_125del | ||
| NM_001927.3:c.1289-20_1289-19del , LRG_380t1:c.1289-20_1289-19del | NP_001918.3:n.1289-20_1289-19del | |
| NM_001927.4:c.1289-20_1289-19del MANE Select | NP_001918.3:n.1289-20_1289-19del | |
| NM_001382708.1:c.1286-20_1286-19del | NP_001369637.1:n.1286-20_1286-19del | |
| NM_001382709.1:c.857-20_857-19del | NP_001369638.1:n.857-20_857-19del | |
| NM_001382710.1:c.1220-20_1220-19del | NP_001369639.1:n.1220-20_1220-19del | |
| NM_001382711.1:c.1268-20_1268-19del | NP_001369640.1:n.1268-20_1268-19del | |
| NM_001382712.1:c.1289-20_1289-19del | NP_001369641.1:n.1289-20_1289-19del | |
| NM_001382713.1:c.1019-20_1019-19del | NP_001369642.1:n.1019-20_1019-19del |