Linked Data
ClinVar Variation Id:
2504501
ClinVar RCV Id:
RCV003231962
gnomAD v4:
13-113118412-G-GGCGAGCACGACCTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118424_113118438dup , CM000675.2:g.113118424_113118438dup | GRCh38 |
| NC_000013.10:g.113772738_113772752dup , CM000675.1:g.113772738_113772752dup | GRCh37 |
| NC_000013.9:g.112820739_112820753dup | NCBI36 |
| NG_009258.1:g.626_640dup , LRG_548:g.626_640dup | |
| NG_009262.1:g.17634_17648dup , LRG_554:g.17634_17648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.751_765dup MANE Select | ENSP00000329546.4:p.Asp255_Gly256insLeuSerGluHisAsp | |
| ENST00000346342.7:c.751_765dup | ENSP00000329546.3:p.Asp255_Gly256insLeuSerGluHisAsp | |
| ENST00000375581.3:c.817_831dup | ENSP00000364731.3:p.Asp277_Gly278insLeuSerGluHisAsp | |
| ENST00000541084.5:c.565_579dup | ENSP00000442051.2:p.Asp193_Gly194insLeuSerGluHisAsp | |
| NM_000131.4:c.817_831dup , LRG_554t1:c.817_831dup | NP_000122.1:p.Asp277_Gly278insLeuSerGluHisAsp | |
| NM_001267554.1:c.565_579dup | NP_001254483.1:p.Asp193_Gly194insLeuSerGluHisAsp | |
| NM_019616.3:c.751_765dup , LRG_554t2:c.751_765dup | NP_062562.1:p.Asp255_Gly256insLeuSerGluHisAsp | |
| NR_051961.1:n.838_852dup | ||
| XM_006719963.2:c.610_624dup | XP_006720026.1:p.Asp208_Gly209insLeuSerGluHisAsp | |
| XM_011537474.1:c.859_873dup | XP_011535776.1:p.Asp291_Gly292insLeuSerGluHisAsp | |
| XM_011537475.1:c.673_687dup | XP_011535777.1:p.Asp229_Gly230insLeuSerGluHisAsp | |
| XM_011537476.1:c.511_525dup | XP_011535778.1:p.Asp175_Gly176insLeuSerGluHisAsp | |
| XM_011537477.1:c.820_834dup | XP_011535779.1:p.Asp278_Gly279insLeuSerGluHisAsp | |
| XM_006719963.3:c.655_669dup | XP_006720026.2:p.Asp223_Gly224insLeuSerGluHisAsp | |
| XM_011537474.2:c.904_918dup | XP_011535776.2:p.Asp306_Gly307insLeuSerGluHisAsp | |
| XM_011537475.2:c.718_732dup | XP_011535777.2:p.Asp244_Gly245insLeuSerGluHisAsp | |
| XM_011537476.2:c.511_525dup | XP_011535778.1:p.Asp175_Gly176insLeuSerGluHisAsp | |
| NM_019616.4:c.751_765dup MANE Select | NP_062562.1:p.Asp255_Gly256insLeuSerGluHisAsp | |
| NR_051961.2:n.835_849dup | ||
| NM_001267554.2:c.565_579dup | NP_001254483.1:p.Asp193_Gly194insLeuSerGluHisAsp |