Linked Data
dbSNP Id:
rs759420640
ExAC:
2:203421028 TGAA / T
gnomAD v2:
2-203421028-TGAA-T
gnomAD v4:
2-202556305-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556307_202556309del , CM000664.2:g.202556307_202556309del | GRCh38 |
| NC_000002.11:g.203421030_203421032del , CM000664.1:g.203421030_203421032del | GRCh37 |
| NC_000002.10:g.203129275_203129277del | NCBI36 |
| NG_009363.1:g.184981_184983del , LRG_712:g.184981_184983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2642_2644del MANE Select | ENSP00000363708.4:p.Glu881del | |
| ENST00000638587.1:c.2573_2575del | ENSP00000491062.1:n.2573_2575del | |
| ENST00000374574.2:c.1587-3389_1587-3387del | ENSP00000363702.2:n.1587-3389_1587-3387del | |
| ENST00000374580.8:c.2642_2644del | ENSP00000363708.4:p.Glu881del | |
| NM_001204.6:c.2642_2644del , LRG_712t1:c.2642_2644del | NP_001195.2:p.Glu881del | |
| XM_011511687.1:c.2642_2644del | XP_011509989.1:p.Glu881del | |
| XM_011511688.1:c.1587-3389_1587-3387del | XP_011509990.1:n.1587-3389_1587-3387del | |
| NM_001204.7:c.2642_2644del MANE Select | NP_001195.2:p.Glu881del |