Linked Data
ClinVar Variation Id:
627392
ClinVar RCV Id:
RCV000852230
dbSNP Id:
rs757743255
gnomAD v2:
13-113772726-GGCGAGCACGACCTCA-G
gnomAD v3:
13-113118412-GGCGAGCACGACCTCA-G
gnomAD v4:
13-113118412-GGCGAGCACGACCTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118424_113118438del , CM000675.2:g.113118424_113118438del | GRCh38 |
| NC_000013.10:g.113772738_113772752del , CM000675.1:g.113772738_113772752del | GRCh37 |
| NC_000013.9:g.112820739_112820753del | NCBI36 |
| NG_009258.1:g.626_640del , LRG_548:g.626_640del | |
| NG_009262.1:g.17634_17648del , LRG_554:g.17634_17648del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.751_765del MANE Select | ENSP00000329546.4:p.Leu251_Asp255del | |
| ENST00000346342.7:c.751_765del | ENSP00000329546.3:p.Leu251_Asp255del | |
| ENST00000375581.3:c.817_831del | ENSP00000364731.3:p.Leu273_Asp277del | |
| ENST00000541084.5:c.565_579del | ENSP00000442051.2:p.Leu189_Asp193del | |
| NM_000131.4:c.817_831del , LRG_554t1:c.817_831del | NP_000122.1:p.Leu273_Asp277del | |
| NM_001267554.1:c.565_579del | NP_001254483.1:p.Leu189_Asp193del | |
| NM_019616.3:c.751_765del , LRG_554t2:c.751_765del | NP_062562.1:p.Leu251_Asp255del | |
| NR_051961.1:n.838_852del | ||
| XM_006719963.2:c.610_624del | XP_006720026.1:p.Leu204_Asp208del | |
| XM_011537474.1:c.859_873del | XP_011535776.1:p.Leu287_Asp291del | |
| XM_011537475.1:c.673_687del | XP_011535777.1:p.Leu225_Asp229del | |
| XM_011537476.1:c.511_525del | XP_011535778.1:p.Leu171_Asp175del | |
| XM_011537477.1:c.820_834del | XP_011535779.1:p.Leu274_Asp278del | |
| XM_006719963.3:c.655_669del | XP_006720026.2:p.Leu219_Asp223del | |
| XM_011537474.2:c.904_918del | XP_011535776.2:p.Leu302_Asp306del | |
| XM_011537475.2:c.718_732del | XP_011535777.2:p.Leu240_Asp244del | |
| XM_011537476.2:c.511_525del | XP_011535778.1:p.Leu171_Asp175del | |
| NM_019616.4:c.751_765del MANE Select | NP_062562.1:p.Leu251_Asp255del | |
| NR_051961.2:n.835_849del | ||
| NM_001267554.2:c.565_579del | NP_001254483.1:p.Leu189_Asp193del |