Linked Data
dbSNP Id:
rs1561766259
gnomAD v2:
6-24301942-C-CCTGT
gnomAD v4:
6-24301714-C-CCTGT
MyVariant Identifiers:
chr6:g.24301942_24301943insCTGT (hg19)
chr6:g.24301714_24301715insCTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301715_24301718dup , CM000668.2:g.24301715_24301718dup | GRCh38 |
| NC_000006.11:g.24301943_24301946dup , CM000668.1:g.24301943_24301946dup | GRCh37 |
| NC_000006.10:g.24409922_24409925dup | NCBI36 |
| NG_012829.1:g.61335_61338dup | |
| NG_012829.2:g.86575_86578dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.554_557dup MANE Select | ENSP00000367715.3:p.Leu187GlnfsTer11 | |
| ENST00000378454.7:c.554_557dup | ENSP00000367715.3:p.Leu187GlnfsTer11 | |
| NM_001195610.1:c.554_557dup | NP_001182539.1:p.Leu187GlnfsTer11 | |
| NM_016356.4:c.554_557dup | NP_057440.2:p.Leu187GlnfsTer11 | |
| NM_016356.5:c.554_557dup MANE Select | NP_057440.2:p.Leu187GlnfsTer11 | |
| NM_001195610.2:c.554_557dup | NP_001182539.1:p.Leu187GlnfsTer11 |