Linked Data
ClinVar Variation Id:
225455
ClinVar RCV Id:
RCV000490364
dbSNP Id:
rs1085307091
gnomAD v3:
13-50943386-GA-G
gnomAD v4:
13-50943386-GA-G
COSMIC:
COSM1639366
MyVariant Identifiers:
chr13:g.51517529del (hg19)
chr13:g.51517523del (hg19)
chr13:g.50943393del (hg38)
PubMed:
PMID:17846997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50943393del , CM000675.2:g.50943393del | GRCh38 |
| NC_000013.10:g.51517529del , CM000675.1:g.51517529del | GRCh37 |
| NC_000013.9:g.50415530del | NCBI36 |
| NG_009055.1:g.38638del , LRG_279:g.38638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.509del MANE Select | ENSP00000337623.2:p.Lys170ArgfsTer9 | |
| ENST00000422660.6:c.509del | ENSP00000389877.1:p.Lys170ArgfsTer9 | |
| ENST00000459681.3:n.192del | ||
| ENST00000495244.7:n.520del | ||
| ENST00000611510.5:c.419del | ENSP00000481236.3:p.Lys140ArgfsTer9 | |
| ENST00000616907.2:c.509del | ENSP00000482701.2:p.Lys170ArgfsTer9 | |
| ENST00000642207.1:c.248del | ||
| ENST00000642454.1:c.419del | ENSP00000494221.1:p.Lys140ArgfsTer9 | |
| ENST00000642721.1:c.509del | ENSP00000495650.1:p.Lys170ArgfsTer9 | |
| ENST00000642995.1:c.392del | ENSP00000493499.1:p.Lys131ArgfsTer9 | |
| ENST00000643159.1:c.419del | ENSP00000495587.1:p.Lys140ArgfsTer9 | |
| ENST00000643215.1:c.379del | ||
| ENST00000643405.1:c.157del | ||
| ENST00000643529.1:c.22del | ||
| ENST00000643682.1:c.509del | ENSP00000493655.1:p.Lys170ArgfsTer9 | |
| ENST00000643774.1:c.473del | ENSP00000495482.1:p.Lys158ArgfsTer9 | |
| ENST00000644034.1:c.65-4594del | ENSP00000495456.1:n.65-4594del | |
| ENST00000644183.1:c.399del | ENSP00000495657.1:n.399del | |
| ENST00000644297.1:c.*367del | ENSP00000495519.1:n.*367del | |
| ENST00000644420.1:n.535del | ||
| ENST00000644425.1:c.460del | ||
| ENST00000644518.1:c.*376del | ENSP00000495793.1:n.*376del | |
| ENST00000645188.1:c.500del | ENSP00000496224.1:p.Lys167ArgfsTer9 | |
| ENST00000645333.1:n.441del | ||
| ENST00000645370.1:c.344del | ENSP00000494019.1:p.Lys115ArgfsTer9 | |
| ENST00000645618.1:c.419del | ENSP00000495429.1:p.Lys140ArgfsTer9 | |
| ENST00000645712.1:n.533del | ||
| ENST00000645955.1:c.509del | ENSP00000495755.1:p.Lys170ArgfsTer9 | |
| ENST00000645990.1:c.509del | ENSP00000496571.1:p.Lys170ArgfsTer9 | |
| ENST00000646092.1:c.473del | ENSP00000496293.1:p.Lys158ArgfsTer9 | |
| ENST00000646279.1:n.806del | ||
| ENST00000646339.1:c.171del | ENSP00000495773.1:n.171del | |
| ENST00000646709.1:c.419del | ENSP00000495278.1:p.Lys140ArgfsTer9 | |
| ENST00000646731.1:c.500del | ENSP00000493828.1:p.Lys167ArgfsTer9 | |
| ENST00000646960.1:c.509del | ENSP00000496481.1:p.Lys170ArgfsTer9 | |
| ENST00000646964.1:n.1148del | ||
| ENST00000647387.1:c.419del | ENSP00000495487.1:p.Lys140ArgfsTer9 | |
| ENST00000336617.7:c.509del | ENSP00000337623.2:p.Lys170ArgfsTer9 | |
| ENST00000422660.5:c.509del | ENSP00000389877.1:p.Lys170ArgfsTer9 | |
| ENST00000495244.6:n.520del | ||
| ENST00000611510.4:c.509del | ENSP00000481236.2:p.Lys170ArgfsTer9 | |
| ENST00000613449.4:n.2571del | ||
| ENST00000621641.1:n.97del | ||
| NM_001142279.2:c.509del , LRG_279t1:c.509del | NP_001135751.1:p.Lys170ArgfsTer9 | |
| NM_024570.3:c.509del , LRG_279t2:c.509del | NP_078846.2:p.Lys170ArgfsTer9 | |
| XM_005266524.2:c.509del | XP_005266581.1:p.Lys170ArgfsTer9 | |
| XM_005266525.2:c.509del | XP_005266582.1:p.Lys170ArgfsTer9 | |
| XM_006719867.2:c.491del | XP_006719930.1:p.Lys164ArgfsTer9 | |
| XM_011535229.1:c.509del | XP_011533531.1:p.Lys170ArgfsTer9 | |
| XM_011535230.1:c.509del | XP_011533532.1:p.Lys170ArgfsTer9 | |
| XM_011535231.1:c.509del | XP_011533533.1:p.Lys170ArgfsTer9 | |
| XM_011535232.1:c.347del | XP_011533534.1:p.Lys116ArgfsTer9 | |
| XM_011535233.1:c.101del | XP_011533535.1:p.Lys34ArgfsTer9 | |
| XM_011535234.1:c.509del | XP_011533536.1:p.Gly171ValfsTer? | |
| XM_006719867.4:c.491del | XP_006719930.1:p.Lys164ArgfsTer9 | |
| XM_011535230.2:c.509del | XP_011533532.1:p.Lys170ArgfsTer9 | |
| XM_011535231.2:c.509del | XP_011533533.1:p.Lys170ArgfsTer9 | |
| XM_011535233.2:c.101del | XP_011533535.1:p.Lys34ArgfsTer9 | |
| XM_017020747.1:c.509del | XP_016876236.1:p.Lys170ArgfsTer9 | |
| NM_024570.4:c.509del MANE Select | NP_078846.2:p.Lys170ArgfsTer9 |