Linked Data
dbSNP Id:
rs1684628586
gnomAD v3:
2-111929461-AAGGAATTG-A
gnomAD v4:
2-111929461-AAGGAATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111929462_111929469del , CM000664.2:g.111929462_111929469del | GRCh38 |
| NC_000002.11:g.112687039_112687046del , CM000664.1:g.112687039_112687046del | GRCh37 |
| NC_000002.10:g.112403510_112403517del | NCBI36 |
| NG_011607.1:g.35849_35856del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.404_411del MANE Select | ENSP00000295408.4:p.Lys135ThrfsTer14 | |
| ENST00000295408.8:c.404_411del | ENSP00000295408.4:p.Lys135ThrfsTer14 | |
| ENST00000409780.5:c.-46-15498_-46-15491del | ENSP00000387277.1:n.-46-15498_-46-15491del | |
| ENST00000421804.6:c.404_411del | ENSP00000389152.2:p.Lys135ThrfsTer14 | |
| ENST00000439966.5:c.246+158_246+165del | ENSP00000402129.1:n.246+158_246+165del | |
| ENST00000616902.4:c.-812_-805del | ENSP00000482824.1:n.-812_-805del | |
| NM_006343.2:c.404_411del | NP_006334.2:p.Lys135ThrfsTer14 | |
| XM_005263565.3:c.404_411del | XP_005263622.1:p.Lys135ThrfsTer14 | |
| XM_005263568.3:c.404_411del | XP_005263625.1:p.Lys135ThrfsTer14 | |
| XM_011510490.1:c.215_222del | XP_011508792.1:p.Lys72ThrfsTer14 | |
| XM_005263565.4:c.404_411del | XP_005263622.1:p.Lys135ThrfsTer14 | |
| XM_005263568.4:c.404_411del | XP_005263625.1:p.Lys135ThrfsTer14 | |
| XM_011510490.3:c.215_222del | XP_011508792.1:p.Lys72ThrfsTer14 | |
| XM_017003164.1:c.215_222del | XP_016858653.1:p.Lys72ThrfsTer14 | |
| XM_017003165.2:c.-864_-857del | XP_016858654.1:n.-864_-857del | |
| NM_006343.3:c.404_411del MANE Select | NP_006334.2:p.Lys135ThrfsTer14 |