Linked Data
ClinVar Variation Id:
49120
dbSNP Id:
rs118203464
gnomAD v2:
9-135787679-CTG-C
PubMed:
PMID:10533067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132912298_132912299del , CM000671.2:g.132912298_132912299del | GRCh38 |
| NC_000009.11:g.135787685_135787686del , CM000671.1:g.135787685_135787686del | GRCh37 |
| NC_000009.10:g.134777506_134777507del | NCBI36 |
| NG_012386.1:g.37340_37341del , LRG_486:g.37340_37341del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475903.7:c.901_902del | ENSP00000496126.2:p.Gln301GlufsTer2 | |
| ENST00000490179.4:c.901_902del | ENSP00000495533.2:p.Gln301GlufsTer2 | |
| ENST00000642261.2:c.901_902del | ENSP00000494743.2:p.Gln301GlufsTer2 | |
| ENST00000643275.2:c.901_902del | ENSP00000495598.2:p.Gln301GlufsTer2 | |
| ENST00000643362.2:c.748_749del | ENSP00000496398.2:p.Gln250GlufsTer2 | |
| ENST00000643625.2:c.901_902del | ENSP00000495546.2:p.Gln301GlufsTer2 | |
| ENST00000643691.2:c.538_539del | ENSP00000494916.2:p.Gln180GlufsTer2 | |
| ENST00000644184.2:c.901_902del | ENSP00000495428.2:p.Gln301GlufsTer2 | |
| ENST00000645129.2:c.748_749del | ENSP00000493639.2:p.Gln250GlufsTer2 | |
| ENST00000646440.2:c.901_902del | ENSP00000495830.2:p.Gln301GlufsTer2 | |
| ENST00000647078.2:c.901_902del | ENSP00000496066.1:p.Gln301GlufsTer2 | |
| ENST00000298552.9:c.901_902del MANE Select | ENSP00000298552.3:p.Gln301GlufsTer2 | |
| ENST00000403810.6:c.901_902del | ENSP00000386093.1:p.Gln301GlufsTer2 | |
| ENST00000493467.6:n.175_176del | ||
| ENST00000642344.1:c.*642_*643del | ENSP00000494847.1:n.*642_*643del | |
| ENST00000642617.1:c.901_902del | ENSP00000493773.1:p.Gln301GlufsTer2 | |
| ENST00000642627.1:c.901_902del | ENSP00000496772.1:p.Gln301GlufsTer2 | |
| ENST00000642646.1:c.901_902del | ENSP00000496292.1:p.Gln301GlufsTer2 | |
| ENST00000642745.1:c.901_902del | ENSP00000493963.1:p.Gln301GlufsTer2 | |
| ENST00000642811.1:c.*671_*672del | ENSP00000495554.1:n.*671_*672del | |
| ENST00000642854.1:c.*686_*687del | ENSP00000494639.1:n.*686_*687del | |
| ENST00000643072.1:c.748_749del | ENSP00000496691.1:p.Gln250GlufsTer2 | |
| ENST00000643362.1:c.748_749del | ENSP00000496398.1:p.Gln250GlufsTer2 | |
| ENST00000643583.1:c.901_902del | ENSP00000494685.1:p.Gln301GlufsTer2 | |
| ENST00000643691.1:c.538_539del | ENSP00000494916.1:p.Gln180GlufsTer2 | |
| ENST00000643875.1:c.901_902del | ENSP00000495158.1:p.Gln301GlufsTer2 | |
| ENST00000644097.1:c.901_902del | ENSP00000494682.1:p.Gln301GlufsTer2 | |
| ENST00000644255.1:c.*671_*672del | ENSP00000493608.1:n.*671_*672del | |
| ENST00000644319.1:n.628_629del | ||
| ENST00000644997.1:c.*558_*559del | ENSP00000495654.1:n.*558_*559del | |
| ENST00000645129.1:c.748_749del | ENSP00000493639.1:p.Gln250GlufsTer2 | |
| ENST00000645150.1:c.901_902del | ENSP00000494365.1:p.Gln301GlufsTer2 | |
| ENST00000645901.1:n.1104_1105del | ||
| ENST00000646391.1:c.*671_*672del | ENSP00000494104.1:n.*671_*672del | |
| ENST00000646625.1:c.901_902del | ENSP00000496263.1:p.Gln301GlufsTer2 | |
| ENST00000647078.1:c.901_902del | ENSP00000496066.1:p.Gln301GlufsTer2 | |
| ENST00000647279.1:c.*140_*141del | ENSP00000494502.1:n.*140_*141del | |
| ENST00000647462.1:c.901_902del | ENSP00000495821.1:p.Gln301GlufsTer2 | |
| ENST00000647506.1:n.1129_1130del | ||
| ENST00000298552.7:c.901_902del | ENSP00000298552.3:p.Gln301GlufsTer2 | |
| ENST00000403810.5:c.901_902del | ENSP00000386093.1:p.Gln301GlufsTer2 | |
| ENST00000440111.6:c.901_902del | ENSP00000394524.2:p.Gln301GlufsTer2 | |
| ENST00000493467.5:n.1097_1098del | ||
| ENST00000545250.5:c.748_749del | ENSP00000444017.1:p.Gln250GlufsTer2 | |
| NM_000368.4:c.901_902del , LRG_486t1:c.901_902del | NP_000359.1:p.Gln301GlufsTer2 | |
| NM_001162426.1:c.901_902del | NP_001155898.1:p.Gln301GlufsTer2 | |
| NM_001162427.1:c.748_749del | NP_001155899.1:p.Gln250GlufsTer2 | |
| XM_005272211.1:c.901_902del | XP_005272268.1:p.Gln301GlufsTer2 | |
| XM_006717271.1:c.901_902del | XP_006717334.1:p.Gln301GlufsTer2 | |
| XM_006717272.2:c.901_902del | XP_006717335.1:p.Gln301GlufsTer2 | |
| XM_011518979.1:c.901_902del | XP_011517281.1:p.Gln301GlufsTer2 | |
| NM_001362177.1:c.538_539del | NP_001349106.1:p.Gln180GlufsTer2 | |
| XM_011518979.2:c.901_902del | XP_011517281.1:p.Gln301GlufsTer2 | |
| XM_017015096.1:c.901_902del | XP_016870585.1:p.Gln301GlufsTer2 | |
| XM_017015097.1:c.901_902del | XP_016870586.1:p.Gln301GlufsTer2 | |
| XM_017015098.1:c.901_902del | XP_016870587.1:p.Gln301GlufsTer2 | |
| XM_017015100.1:c.538_539del | XP_016870589.1:p.Gln180GlufsTer2 | |
| XM_017015101.1:c.538_539del | XP_016870590.1:p.Gln180GlufsTer2 | |
| NM_000368.5:c.901_902del MANE Select | NP_000359.1:p.Gln301GlufsTer2 | |
| NM_001162426.2:c.901_902del | NP_001155898.1:p.Gln301GlufsTer2 | |
| NM_001162427.2:c.748_749del | NP_001155899.1:p.Gln250GlufsTer2 | |
| NM_001362177.2:c.538_539del | NP_001349106.1:p.Gln180GlufsTer2 |