Linked Data
dbSNP Id:
rs1249760883
gnomAD v2:
4-149073577-ACT-A
gnomAD v3:
4-148152426-ACT-A
gnomAD v4:
4-148152426-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148152429_148152430del , CM000666.2:g.148152429_148152430del | GRCh38 |
| NC_000004.11:g.149073580_149073581del , CM000666.1:g.149073580_149073581del | GRCh37 |
| NC_000004.10:g.149293030_149293031del | NCBI36 |
| NG_013350.1:g.295094_295095del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2510+41_2510+42del MANE Select | ENSP00000350815.3:n.2510+41_2510+42del | |
| ENST00000342437.8:c.2015-32140_2015-32139del | ENSP00000343907.4:n.2015-32140_2015-32139del | |
| ENST00000344721.8:c.2510+41_2510+42del | ENSP00000341390.4:n.2510+41_2510+42del | |
| ENST00000358102.7:c.2510+41_2510+42del | ENSP00000350815.3:n.2510+41_2510+42del | |
| ENST00000503174.1:n.480_481del | ||
| ENST00000503313.1:n.707+41_707+42del | ||
| ENST00000511528.1:c.2522+41_2522+42del | ENSP00000421481.1:n.2522+41_2522+42del | |
| ENST00000512865.5:c.2159+41_2159+42del | ENSP00000423510.1:n.2159+41_2159+42del | |
| ENST00000625323.2:c.2522+41_2522+42del | ENSP00000486719.1:n.2522+41_2522+42del | |
| NM_000901.4:c.2510+41_2510+42del | NP_000892.2:n.2510+41_2510+42del | |
| NM_001166104.1:c.2159+41_2159+42del | NP_001159576.1:n.2159+41_2159+42del | |
| XM_011531975.1:c.2522+41_2522+42del | XP_011530277.1:n.2522+41_2522+42del | |
| XM_011531976.1:c.2522+41_2522+42del | XP_011530278.1:n.2522+41_2522+42del | |
| XM_011531977.1:c.2522+41_2522+42del | XP_011530279.1:n.2522+41_2522+42del | |
| XM_011531978.1:c.2522+41_2522+42del | XP_011530280.1:n.2522+41_2522+42del | |
| NM_001354819.1:c.2159+41_2159+42del | NP_001341748.1:n.2159+41_2159+42del | |
| NR_148974.1:n.2378-32140_2378-32139del | ||
| XM_011531978.2:c.2522+41_2522+42del | XP_011530280.1:n.2522+41_2522+42del | |
| NM_000901.5:c.2510+41_2510+42del MANE Select | NP_000892.2:n.2510+41_2510+42del | |
| NM_001166104.2:c.2159+41_2159+42del | NP_001159576.1:n.2159+41_2159+42del | |
| NR_148974.2:n.2272-32140_2272-32139del |