Linked Data
ClinVar Variation Id:
1731062
dbSNP Id:
rs1471810016
gnomAD v2:
13-48878079-G-GCCA
gnomAD v3:
13-48303943-G-GCCA
gnomAD v4:
13-48303943-G-GCCA
MyVariant Identifiers:
chr13:g.48878079_48878080insCCA (hg19)
chr13:g.48303943_48303944insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303946_48303948dup , CM000675.2:g.48303946_48303948dup | GRCh38 |
| NC_000013.10:g.48878082_48878084dup , CM000675.1:g.48878082_48878084dup | GRCh37 |
| NC_000013.9:g.47776083_47776085dup | NCBI36 |
| NG_009009.1:g.5200_5202dup , LRG_517:g.5200_5202dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.34_36dup MANE Select | ENSP00000267163.4:p.Thr12_Ala13insThr | |
| ENST00000646097.1:c.34_36dup | ENSP00000496556.1:p.Thr12_Ala13insThr | |
| ENST00000650461.1:c.34_36dup | ENSP00000497193.1:p.Thr12_Ala13insThr | |
| ENST00000267163.4:c.34_36dup | ENSP00000267163.4:p.Thr12_Ala13insThr | |
| ENST00000467505.5:c.34_36dup | ENSP00000434702.1:p.Thr12_Ala13insThr | |
| ENST00000525036.1:n.196_198dup | ||
| NM_000321.2:c.34_36dup , LRG_517t1:c.34_36dup | NP_000312.2:p.Thr12_Ala13insThr | |
| NM_000321.3:c.34_36dup MANE Select | NP_000312.2:p.Thr12_Ala13insThr |