Linked Data
dbSNP Id:
rs1644616763
gnomAD v3:
1-55044023-CTGCTGGAGCTG-C
gnomAD v4:
1-55044023-CTGCTGGAGCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044024_55044034del , CM000663.2:g.55044024_55044034del | GRCh38 |
| NC_000001.10:g.55509697_55509707del , CM000663.1:g.55509697_55509707del | GRCh37 |
| NC_000001.9:g.55282285_55282295del | NCBI36 |
| NG_009061.1:g.9478_9488del , LRG_275:g.9478_9488del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.389_399del | ENSP00000501161.2:p.Leu130ArgfsTer? | |
| ENST00000710286.1:c.746_756del | ENSP00000518176.1:p.Leu249ArgfsTer? | |
| ENST00000673662.1:n.59_69del | ||
| ENST00000673726.1:c.389_399del | ENSP00000501004.1:p.Leu130ArgfsTer? | |
| ENST00000673903.1:c.14_24del | ENSP00000501257.1:p.Leu5ArgfsTer? | |
| ENST00000302118.5:c.389_399del MANE Select | ENSP00000303208.5:p.Leu130ArgfsTer? | |
| NM_174936.3:c.389_399del , LRG_275t1:c.389_399del | NP_777596.2:p.Leu130ArgfsTer? | |
| NR_110451.1:n.182+3621_182+3631del | ||
| NM_174936.4:c.389_399del MANE Select | NP_777596.2:p.Leu130ArgfsTer? | |
| NR_110451.2:n.182+3621_182+3631del |