Linked Data
dbSNP Id:
rs1491487836
gnomAD v2:
13-51504780-AAG-A
gnomAD v3:
13-50930644-AAG-A
gnomAD v4:
13-50930644-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50930646_50930647del , CM000675.2:g.50930646_50930647del | GRCh38 |
| NC_000013.10:g.51504782_51504783del , CM000675.1:g.51504782_51504783del | GRCh37 |
| NC_000013.9:g.50402783_50402784del | NCBI36 |
| NG_009055.1:g.25891_25892del , LRG_279:g.25891_25892del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336617.8:c.245-37_245-36del MANE Select | ENSP00000337623.2:n.245-37_245-36del | |
| ENST00000422660.6:c.245-37_245-36del | ENSP00000389877.1:n.245-37_245-36del | |
| ENST00000459681.3:n.43-37_43-36del | ||
| ENST00000495244.7:n.256-37_256-36del | ||
| ENST00000611510.5:c.155-37_155-36del | ENSP00000481236.3:n.155-37_155-36del | |
| ENST00000616907.2:c.245-37_245-36del | ENSP00000482701.2:n.245-37_245-36del | |
| ENST00000637648.2:c.155-37_155-36del | ENSP00000490077.2:n.155-37_155-36del | |
| ENST00000642207.1:c.99-37_99-36del | ||
| ENST00000642454.1:c.155-37_155-36del | ENSP00000494221.1:n.155-37_155-36del | |
| ENST00000642721.1:c.245-37_245-36del | ENSP00000495650.1:n.245-37_245-36del | |
| ENST00000642995.1:c.137-37_137-36del | ENSP00000493499.1:n.137-37_137-36del | |
| ENST00000643159.1:c.155-37_155-36del | ENSP00000495587.1:n.155-37_155-36del | |
| ENST00000643215.1:c.115-37_115-36del | ||
| ENST00000643462.1:c.*60-37_*60-36del | ENSP00000496130.1:n.*60-37_*60-36del | |
| ENST00000643682.1:c.245-37_245-36del | ENSP00000493655.1:n.245-37_245-36del | |
| ENST00000643774.1:c.209-37_209-36del | ENSP00000495482.1:n.209-37_209-36del | |
| ENST00000644034.1:c.65-17341_65-17340del | ENSP00000495456.1:n.65-17341_65-17340del | |
| ENST00000644183.1:c.211+1064_211+1065del | ENSP00000495657.1:n.211+1064_211+1065del | |
| ENST00000644297.1:c.*112-37_*112-36del | ENSP00000495519.1:n.*112-37_*112-36del | |
| ENST00000644420.1:n.271-37_271-36del | ||
| ENST00000644425.1:c.196-37_196-36del | ||
| ENST00000644518.1:c.*112-37_*112-36del | ENSP00000495793.1:n.*112-37_*112-36del | |
| ENST00000645188.1:c.245-37_245-36del | ENSP00000496224.1:n.245-37_245-36del | |
| ENST00000645333.1:n.177-37_177-36del | ||
| ENST00000645370.1:c.80-37_80-36del | ENSP00000494019.1:n.80-37_80-36del | |
| ENST00000645549.1:n.509-37_509-36del | ||
| ENST00000645618.1:c.155-37_155-36del | ENSP00000495429.1:n.155-37_155-36del | |
| ENST00000645712.1:n.278-37_278-36del | ||
| ENST00000645955.1:c.245-37_245-36del | ENSP00000495755.1:n.245-37_245-36del | |
| ENST00000645990.1:c.245-37_245-36del | ENSP00000496571.1:n.245-37_245-36del | |
| ENST00000646092.1:c.209-37_209-36del | ENSP00000496293.1:n.209-37_209-36del | |
| ENST00000646279.1:n.542-37_542-36del | ||
| ENST00000646709.1:c.155-37_155-36del | ENSP00000495278.1:n.155-37_155-36del | |
| ENST00000646731.1:c.245-37_245-36del | ENSP00000493828.1:n.245-37_245-36del | |
| ENST00000646960.1:c.245-37_245-36del | ENSP00000496481.1:n.245-37_245-36del | |
| ENST00000647387.1:c.155-37_155-36del | ENSP00000495487.1:n.155-37_155-36del | |
| ENST00000336617.7:c.245-37_245-36del | ENSP00000337623.2:n.245-37_245-36del | |
| ENST00000422660.5:c.245-37_245-36del | ENSP00000389877.1:n.245-37_245-36del | |
| ENST00000459681.2:n.43-37_43-36del | ||
| ENST00000495244.6:n.256-37_256-36del | ||
| ENST00000611510.4:c.245-37_245-36del | ENSP00000481236.2:n.245-37_245-36del | |
| NM_001142279.2:c.245-37_245-36del , LRG_279t1:c.245-37_245-36del | NP_001135751.1:n.245-37_245-36del | |
| NM_024570.3:c.245-37_245-36del , LRG_279t2:c.245-37_245-36del | NP_078846.2:n.245-37_245-36del | |
| XM_005266524.2:c.245-37_245-36del | XP_005266581.1:n.245-37_245-36del | |
| XM_005266525.2:c.245-37_245-36del | XP_005266582.1:n.245-37_245-36del | |
| XM_006719867.2:c.227-37_227-36del | XP_006719930.1:n.227-37_227-36del | |
| XM_011535229.1:c.245-37_245-36del | XP_011533531.1:n.245-37_245-36del | |
| XM_011535230.1:c.245-37_245-36del | XP_011533532.1:n.245-37_245-36del | |
| XM_011535231.1:c.245-37_245-36del | XP_011533533.1:n.245-37_245-36del | |
| XM_011535232.1:c.83-37_83-36del | XP_011533534.1:n.83-37_83-36del | |
| XM_011535233.1:c.-369-37_-369-36del | XP_011533535.1:n.-369-37_-369-36del | |
| XM_011535234.1:c.245-37_245-36del | XP_011533536.1:n.245-37_245-36del | |
| XM_006719867.4:c.227-37_227-36del | XP_006719930.1:n.227-37_227-36del | |
| XM_011535230.2:c.245-37_245-36del | XP_011533532.1:n.245-37_245-36del | |
| XM_011535231.2:c.245-37_245-36del | XP_011533533.1:n.245-37_245-36del | |
| XM_011535233.2:c.-369-37_-369-36del | XP_011533535.1:n.-369-37_-369-36del | |
| XM_017020747.1:c.245-37_245-36del | XP_016876236.1:n.245-37_245-36del | |
| NM_024570.4:c.245-37_245-36del MANE Select | NP_078846.2:n.245-37_245-36del |