Linked Data
dbSNP Id:
rs2067160660
gnomAD v3:
11-61835039-AGGGACTTCTCCCTG-A
gnomAD v4:
11-61835039-AGGGACTTCTCCCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61835040_61835053del , CM000673.2:g.61835040_61835053del | GRCh38 |
| NC_000011.9:g.61602512_61602525del , CM000673.1:g.61602512_61602525del | GRCh37 |
| NC_000011.8:g.61359088_61359101del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.208-2738_208-2725del MANE Select | ENSP00000278840.4:n.208-2738_208-2725del | |
| ENST00000257261.10:c.142-2738_142-2725del | ENSP00000257261.6:n.142-2738_142-2725del | |
| ENST00000278840.8:c.208-2738_208-2725del | ENSP00000278840.4:n.208-2738_208-2725del | |
| ENST00000517312.5:c.-159-2738_-159-2725del | ENSP00000430225.1:n.-159-2738_-159-2725del | |
| ENST00000518606.5:c.-159-2738_-159-2725del | ENSP00000430054.1:n.-159-2738_-159-2725del | |
| ENST00000521849.5:c.208-2738_208-2725del | ENSP00000431091.1:n.208-2738_208-2725del | |
| ENST00000522056.5:c.115-2738_115-2725del | ENSP00000429500.1:n.115-2738_115-2725del | |
| NM_001281501.1:c.142-2738_142-2725del | NP_001268430.1:n.142-2738_142-2725del | |
| NM_001281502.1:c.115-2738_115-2725del | NP_001268431.1:n.115-2738_115-2725del | |
| NM_004265.3:c.208-2738_208-2725del | NP_004256.1:n.208-2738_208-2725del | |
| XM_011545395.1:c.208-2738_208-2725del | XP_011543697.1:n.208-2738_208-2725del | |
| NM_004265.4:c.208-2738_208-2725del MANE Select | NP_004256.1:n.208-2738_208-2725del |